Data Sharing

“International sharing of data and expertise is essential to increase the statistical robustness and medical relevance of our genomics studies in male infertility.”

Clinical Assessment of Infertility Genes

Advances in genetic testing result in the discovery of numerous novel genetic variants that may play a role in male infertility each year. To assist in this feedback of knowledge, the IMIGC continuously screens the clinical validity of gene to certain types of male infertility. Following the pioneering work published in Human Reproduction [May 2019] we submitted an update in 2021 published in Human Reproduction Update) and in the table below we present the assessment for each infertility gene made by our panel of experts.

 It is the aim of this consortium to regularly review and publish our assessments in peer-review journals and display the results here for all to see.

 

Frequently asked questions:

Where can find the full list of assessed genes?

An interactive table show be found below in this page, but should it not be visible for whatever reason you can find the manuscript and associated data here or the entire table can be downloaded from here.

How was this scoring performed?

Scoring is performed by at least two independent reviewers according to the Smith et al. system and we classified genes into no evidence (<3 points), limited (3-8 points), moderate (9-12 points), strong (13-15 points) or definitive (>15 points), with of a maximum of 17 points.

Why do some genes have the classification “Unable to classify”?

For some genes the inheritance pattern remains unclear or suggests polygenic inheritance, the technical quality of the identification method was too poor or the exact variant information could not be retrieved.

When is the next release scheduled?

The next release is scheduled for 2025.

Spotted a mistake, what can I do?

Please contact us via this website or email a member of this consortium.

Improved Phenotypic Classification of Male Infertility

An increasing number of genes are being described in the context of non-syndromic male infertility. Linking the underlying genetic causes of non-syndromic male infertility with clinical data from patients is important to establish new genotype-phenotype correlations. This process can be facilitated by using universal nomenclature, but no standardized vocabulary is available in the field of non-syndromic male infertility. The International Male Infertility Genomics Consortium aimed at filling this gap, providing a standardized vocabulary containing nomenclature based on the Human Phenotype Ontology (HPO).

The “HPO tree” was substantially revised compared with the previous version and is based on the clinical work-up of infertile men, including physical examination and hormonal assessment. Some causes of male infertility can already be suspected based on the patient’s clinical history, whereas in other instances, a testicular biopsy is needed for diagnosis.

We assembled 49 HPO terms that are linked in a logical hierarchy and showed examples of morphological features of spermatozoa and testicular histology of infertile men with identified genetic diagnoses to describe the phenotypes. This work will help to record patients’ phenotypes systematically and facilitate communication between geneticists and andrologists.

Where can find the HPO decision tree?

The HPO tree can ve found below in this page, but should it not be visible for whatever reason you can find the manuscript and associated data here or the full-scale image can be downloaded from here.

Where can find the HPO terms and associated semen and testicular phenotypes descriptions?

This HPO tree can ve found below in this page, but should it not be visible for whatever reason you can find the manuscript and associated data here or the full-scale image can be downloaded from here.

List of CLINICAL ASSESSED INFERTILITY GENES – HOUSTON et AL 2021

HGNC gene nameSynonym(s)LocationDisorderInheritance pattern in humanType of infertilityExpected result semen analysisScoreConclusionScore SheetsAssessment
ABCA19q31.1Tangier disease; OMIM:205400ARSyndromic infertilityOligoasthenoteratozoospermia6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ABCG8GBD4, STSL, STSL12p21Non-obstructive azoospermia; OMIM:NA (PS258150)UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/ABCG8-AZS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ACEDCP; ACE1; DCP1; CD14317q23.3Oligozoospermia and azoospermiaUndeterminedIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/ACE-NOA.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ACR22q13.33Unexplained male infertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ACTL7AT-ACTIN2; Tact2; Testicular Secretory Protein Li 39q31.3Azoospermia and oligozoospermiaUndeterminedIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/ACTL7A-NOA-OZS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ACTL7BTAKT19q31.3Azoospermia and oligozoospermiaARIsolated infertilityAzoospermia, oligozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/ACTL7B-NOA-OZS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ADAM2014q24.2Fertilization failureUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ADCY10N/A1q24.2AsthenozoospermiaARSyndromic infertilityAsthenozoospermia7.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/ADCY10-ASZ.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ADGRG2HE6; EDDM6; GPR64; CBAVDX; TM7LN2Xp22.13Congenital Bilateral Absence of the Vas Deferens; OMIM:300985XLIsolated infertilityAzoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/ADGRG2-CBAVD.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
AGFG12q36.3GlobozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AK714q32.2Multiple morphological abnormalities of the sperm flagella; OMIM:617965ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AKAP29q31.3Kallmann syndrome; hypogonadotropic hypogonadism, delayed puberty, cryptorchidism, small testesUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AKAP312p13.32Multiple morphological abnormalities of the sperm flagella; OMIM:NA (PS258150)ARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AKAP4Xp11.22Multiple morphological abnormalities of the sperm flagella; OMIM:NA (PS258150)XLIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella4Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AKR1C210p15.1HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AKR1C310p15.1HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AKR1C410p15.1HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AKR1D17q33HypospadiasARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ALKBH517p11.2Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ALOX15N/A17p13.2Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/ALOX15-NOA.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ALX4KIAA1788; CRS5; FND2; FPP; PFM;11p11.2CryptorchidismADSyndromic infertilityVariable7.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/ALX4-CO-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
AMELYYp11.2OligozoospermiaYLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
AMHMIF; MIS;19p13.3Persistent Müllerian Duct Syndrome; OMIM:261550ARReproductive system syndrome/endocrine disorderOligoasthenoteratozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/AMH-PMDS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
AMHR2AMHR; MISR2;12q13.13Persistent Müllerian Duct Syndrome; OMIM:261550ARReproductive system syndrome/endocrine disorderOligoasthenoteratozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/AMHR2-PMDS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
AMN112p11.21Hypogonadotropic hypogonadism and Kallmann syndromeARN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ANOS1HH1; HHA; KAL; KMS; KAL1; ADMLX; WFDC19; KALIG-1Xp22.31Kallmann syndrome; OMIM:308700XLReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/ANOS1-KS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ANOS1KAL1Xp22.31Isolated Hypogonadotropic Hypogonadism (normosmic); OMIM:308700XLReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/ANOS1-IHH.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
APOA1HPALP2, apo(a)11q23.3Testicular amyloidosis; OMIM:105200ADSyndromic infertilityAzoospermia, oligozoospermia12Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/APOA1-TA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
APOELDLCQ5, LPG, APOE419q13.32Male infertility; OMIM:NA (PS258150)UndeterminedSyndromic infertilityAsthenoteratozoospermia, azoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/APOE-AZS-NOA.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ARDHTR; NR3C4Xq12Partial androgen insentitivity syndrome; OMIM:312300/300633XLReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/AR-PAIS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ARDHTR; NR3C4Xq12Non-obstructive azoospermia; OMIM:NAXLIsolated infertilityAzoospermia, oligoasthenoteratozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/AR-NOA-OZS-OAT.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ARID5BDESRT; MRF210q21.2Non-obstructive azoospermia; OMIM:NA(PS258150)ARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/ARID5B-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ARL2BPBART, BART1, RP6616q13Asthenozoospermia and Retinitis Pigmentosa; OMIM:615434ARSyndromic infertilityAsthenozoospermia6Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/ARL2BP-ASZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ARMC2N/A6q21Multiple morphological abnormalities of the sperm flagella; OMIM:618433ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella11Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/ARMC2-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ARMCX4GASP4, MGC40053, CXorf35Xq22.1Non obstructive azoospermia, OMIM: 301046XLIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/ARMCX4-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ART34q21.1Non-obstructive azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ARXXp21.35α-reductase deficiencyXLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ATF31q32.3HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ATXN1N/A6p22.3Non-obstructive azoospermia; OMIM:NA (PS258150)ADIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/ATXN1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
AURKCARK3; ARK-3; STK13; AIE2; AIK3; AurC; SPGF5; AIRK3;19q13.43Macrozoospermia; OMIM:243060ARIsolated infertilityTeratozoospermia: Macrozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/AURKC-MAC-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
AXLARK; UFO; JTK11; Tyro719q13.2Kallmann syndrome; Anosmia in combination with Hypogonadotropic Hypogonadism. Additional features may include cryptorchidism, unilateral absence of vas deferens, and/or micropenisADReproductive system syndrome/endocrine disorderAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/AXL-IHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
B4GALT19p21.1Fertilization failureUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
B4GAT111q13.2Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
BCL2L214q11.2Non-obstructive azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
BCORL1CXorf10, SHUVER, FLJ11362Xq26.1Non obstructive azoospermia; OMIM: 300688XLIsolated infertilityAzoospermia4.75Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/BCORL1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BEX3Xq22.2Non-obstructive azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
BMP4ZYME; BMP2B; OFC11; BMP2B1; MCOPS614q22.2Hypospadias; OMIM:NA (PS300633). Micropenis; OMIM:NAADReproductive system syndrome/endocrine disorderNormozoospermia10.25Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/BMP4-HS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BMP7OP-120q13.31Hypospadias; OMIM:NA (PS300633)ADReproductive system syndrome/endocrine disorderNormozoospermia10.25Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/BMP7-HS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BMPR1B4q22.3AzoospermiaADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
BNC2BSN2; FLJ20043; LUTO;9p22.3-p22.2Hypospadias; OMIM:NA (PS300633)ADReproductive system syndrome/endocrine disorderNormozoospermia10Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/BNC2-HS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BOLL2q33.1Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
BPY2Yq11.223Azoospermia and oligozoospermiaYLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
BRAF7q34Cryptorchidism; OMIM:NA (PS258150)ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia4Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
BRCA1PPP1R53, BRCC1, FANCS, RNF5317q21.31Male infertility; OMIM:NA (PS258150)UndeterminedIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/BRCA1-MI-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BRCA2FANCD1, FACD, FANCD13q13.1Idiopahic male infertility (including azoospermia, oligozoospermia, asthenozoospermia, and teratozoospermia)UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/BRCA2-MI-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BRD2BRD2-IT1, D6S113E, FSH, FSRG1, NAT, O27.1.1, RING3, RNF36p21.32Non-obstructive azoospermia; OMIM:NA (PS258150)UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/BRD2-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BRDTBRD6, CT9, SPGF211p22.1Acephalic sperm; OMIM:617644ARIsolated infertilityTeratozoospermia: Acephalic sperm4.75Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/BRDT-ACE-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BRDTCT9, SPGF21, BRD61p22.1Non-obstructive azoospermiaARIsolated infertilityAzoospermia4.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/BRDT-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
BRWD121q22.2Non-obstructive azoospermiaARN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
BSCL211q12.3Lipodystrophy; OMIM:269700ARSyndromic infertilityTeratozoospermia: abnormal heads, multiple tails, bundled sperm6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
C2CD6ALS2CR112q33.1Globozoospermia; OMIM:NA (PS258150)ARIsolated infertilityTeratozoospermia: globozoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/C2CD6-GZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
C7orf61NA7q22.1Globozoospermia (OMIM: 613958, 102530); Acrosomal hypoplasiaARIsolated infertilityTeratozoospermia: globozoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/C7orf61-GZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CACNA2D17q21.11AzoospermiaADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CALCA11p15.2CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CALCB11p15.2CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CALCRL2q32.1CryptorchidismARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CAMK45q22.1AzoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CAPZA312p12.3Male infertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CASR3q13.33-q21.1Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CATIPC2orf622q35OligoasthenoteratozoospermiaARIsolated infertilityOligoasthenoteratozoospermia7.25Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CATIP-OAT-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CATSPER111q13.1Asthenozoospermia; OMIM:612997ARIsolated infertilityOligoasthenoteratozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CATSPER2N/A15q15.3Asthenozoospermia without deafnessARIsolated infertilityAsthenoteratozoospermia. normozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/CATSPER2-ASZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CATSPER2N/A15q15.3Deafness infertility syndrome; OMIM: 611102ARSyndromic infertilityAsthenoteratozoospermia. normozoospermia11Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/CATSPER2-STRC-DIS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CATSPER2N/A15q15.3Normozoospermia and fertilitzation failure with CATSPER2 function disruption; OMIM:NA (PS258150)ARSyndromic infertilityAsthenoteratozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/CATSPER2-STRC-NZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CATSPER2N/A15q15.3Oligozoospermia; OMIM:NA (PS258150)ARIsolated infertilityAsthenoteratozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/CATSPER2-STRC-OZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CATSPER35q31.1AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CATSPER41p36.11AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CATSPERE1q44Fertilization failure; OMIM:NA (PS258150)ARIsolated infertilityNormozoospermia2Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CBX217q25.346,XX Disorder of sex developmentARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CCDC10317q21.31Primary ciliary dyskinesia; OMIM:614679ARSyndromic infertilityAsthenoteratozoospermia: Multiple Morphological Abnormalities of the Sperm Flagella6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CCDC141CAMDI; FLJ395022q31.2Kallmann syndrome; OMIM:NA (PS147950)ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia12Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/CCDC141-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CCDC39N/A3q26.33Primary ciliary dyskinesia; OMIM:613807ARSyndromic infertilityOligoasthenoteratozoospermia13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/CCDC39-PCD.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CCDC393q26.33AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CCDC40CFAP172, CILD15, FAP17217q25.3Primary ciliary dyskinesia; OMIM:613808ARSyndromic infertilityAsthenoteratozoospermia13.25Stronghttp://www.imigc.org/wp-content/uploads/2021/08/CCDC40-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CCDC4017q25.3AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CCDC62CT10912q24.31GlobozoospermiaARIsolated infertilityTeratozoospermia: globozoospermia5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CCDC62-GZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CCDC9N/A19q13.32Asthenozoospermia; OMIM:NA (PS258150)ARIsolated infertilityAsthenoteratozoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CCDC9-ASZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CCINCalicin 9p13.3GlobozoospermiaARIsolated infertilityTeratozoospermia: globozoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CCIN-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CCKAR4p15.2Hypogonadotropic hypogonadismARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CCKBR11p15.4Hypogonadotropic hypogonadism and Kallmann syndrome, undescended testesUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CCNA113q13.3Azoospermia and oligozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CD461q32.2Idiopathic male infertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CDC14ADFNB32, DFNB35, HCDC141p21.2Oligoasthenoteratozoospermia OMIM:608653ARSyndromic infertilityAzoospermia, oligoasthenoteratozoospermia9Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/CDC14A-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CDC201p34.2Non-obstructive azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CDK212q13.2Non-obstructive azoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CDKN2AARF, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP169p21.3Male infertility; OMIM:NA (PS258150)UndeterminedIsolated infertilityazoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/CDKN2A-MI-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CDY1Yq11.23Non-obstructive azoospermiaYLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CEP112CCDC46 17q24.1Acephalic sperm; OMIM:NA (PS258150)ARIsolated infertilityOligoasthenoteratozoospermia4.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CEP112-ACE-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CEP135N/A4q12Multiple morphological abnormalities of the sperm flagella; OMIM:617576ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella6.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CEP135-MMAF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CEP2903H11AG, KIAA0373, NPHP6, BBS1412q21.32Leber Congenital Amaurosis; OMIM:611755ARSyndromic infertilityAsthenozoospermia9Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/CEP290-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CEP78CRDHL, IP63, C9orf819q21.2Oligoasthenoteratospermia in combination with cone-rod dystrophy and hearing loss; OMIM: 617236ARSyndromic infertilityOligoasthenoteratospermia4Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CEP78-OAT-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFAP251WDR6612q24.31Multiple morphological abnormalities of the sperm flagella; OMIM:NA (PS258150)ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/WDR66-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFAP300C11orf7011q22.1Primary ciliary dyskinesia; OMIM:NA (PS244400)ARSyndromic infertilityOligoasthenoteratozoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CFAP43WDR96, C10ORF7910q25.1Multiple morphological abnormalities of the sperm flagella; OMIM:617592ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CFAP43-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFAP44N/A3q13.2Multiple morphological abnormalities of the sperm flagella; OMIM:617593ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CFAP44-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFAP65CCDC108, SPGF402q35Multiple morphological abnormalities of the sperm flagella; OMIM:618664ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella15Stronghttp://www.imigc.org/wp-content/uploads/2021/08/CFAP65-MMAF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFAP69N/A7q21.13Multiple morphological abnormalities of the sperm flagella; OMIM:617959ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/CFAP69-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFAP70TTC18, TPR Repeat Protein 1810q22.2Multiple morphological abnormalities of the sperm flagella; OMIM:618670ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella6.75Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CFAP70-MMAF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFAP74KIAA1751; C1orf222; FLJ45476;1p36.33Multiple morphological abnormalities of the sperm flagella; OMIM:NA (PS258150)ARIsolated InfertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/CFAP74-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFAP91AAT1; MAATS1; C3orf15; CaM-IP2; SPATA26; AAT1alpha3q13.33Multiple morphological abnormalities of the sperm flagella; OMIM:609910ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella9Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/MAATS1-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFTRMRP7, ABCC7, ABC35, CF7q31.2Congenital Bilateral/Unilateral Absence of Vas Deferens; OMIM:277180ARIsolated infertilityAzoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CFTR-CBAVD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CFTR7q31.2Non-obstructive azoospermia or oligozoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia, oligozoospermia7Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CFTR7q31.2Low fertilization and pregnancy rateARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CHD5N/A1p36.31No OMIM. Male infertilityUndeterminedIsolated infertilityN/AN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/CHD5-MI-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CHD78q12.2Kallmann syndrome without CHARGE phenotype; OMIM:612370ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia16Definitivehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CHD7KIAA1416; FLJ20357; FLJ20361; KAL5; CRG; HH5; IS3;8q12.2Isolated Hypogonadotropic Hypogonadism (normosmic) without CHARGE phenotype; OMIM:612370ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CHD7-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CLCA4CaCC; CaCC21p22.3Azoospermia or oligoasthenozoospermiaUndeterminedIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/CLCA4-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CLDN2SP82Xq22.3Congenital bilateral absence of the vas deferens, Gene ID OMIM: 300520XLIsolated infertilityAzoospermia3.75Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/CLDN2-OA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CLOCKBHLHe8, EC 2.3.1.484q12Oligozoospermia? OMIM: 601851UndeterminedIsolated infertilityOligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/CLOCK-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CNTN21q32.1Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
COL1A117q21.33Sertoli cell only syndromeUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CRCP7q11.21CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CREM10p11.21AzoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CRISP26p12.3Asthenozoospermia and teratozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CS12q13.3Azoospermia and oligozoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CSMD1PPP1R248p23.2Non-obstructive azoospermia; OMIM:NA (PS258150)UndeterminedIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/CSMD1-AZS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CSNK2A216q21GlobozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CSNK2B6p21.33GlobozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CTCFL20q13.31OligoasthenoteratozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CUL4BXq24Sertoli cell only syndromeXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CXCR42q22.1Hypogonadotropic hypogonadism and Kallmann syndromeUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CYP11A1CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; CYTOCHROME P450 SIDE-CHAIN CLEAVAGE ENZYME; CYTOCHROME P450SCC; CYTOCHROME P450C11A1; CYP11A15q24.1Congenital adrenal insufficiency with partial 46,XY sex reversal (Prader stage 4; 5 or 6); OMIM:613743ARReproductive system syndrome/endocrine disordern/a16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CYP11A1-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP11B1P450C118q24.346,XX Differences of Sex Development (Prader scale 4; 5 or 6) due to congenital adrenal hyperplasia (11-beta-hydroxylase deficiency); OMIM: 202010ARReproductive system syndrome/endocrine disorderAzoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CYP11B1-46XXDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP17A1N/A10q24.3246,XY Differences of Sex Development (Prader stage 4, 5 or 6) due to 17-alpha-hydroxylase/17,20-lyase deficiency; OMIM:202110ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CYP17A1-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP19A1Aromatase15q21.2Aromatase excess syndrome with gynaecomastia; OMIM:139300ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CYP19A1-AES-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP19A1Aromatase15q21.246,XX Differences of Sex Development (Prader scale 4; 5 or 6) due to aromatase deficiency; OMIM:613546ARReproductive system syndrome/endocrine disorderAzoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CYP19A1-46XXDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP19A1Aromatase15q21.2Male infertility in 46,XY men due to aromatase deficiency; OMIM:613546ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia9.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/CYP19A1-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP1A1CYPIA1, CYP115q24.1Non-Obstructive Azoospermia; OMIM: 108330ARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/CYP1A1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP1B1NA2p22.2Non-Obstructive AzoospermiaUndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/CYP1B1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP21A2P450c21B; CYP21B; CA21H; CYP21; CAH1; CPS1;6p21.33Classic congenital adrenal hyperplasia; OMIM:201910ARReproductive system syndrome/endocrine disorderVariable17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/CYP21A2-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
CYP21A26p21.33Non-classic adrenal hyperplasia (late onset or no CAH symptoms); OMIM: 201910ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia17Definitivehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
CYP26B1RHFCA; CYP26A2; P450RAI2; P450RAI-22p13.2Non-obstructive azoospermia, GENE OMIM: 605207UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/CYP26B1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DAZ1Yq11.223AzoospermiaYLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DAZL3p24.3Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DCAF172q31.1Hypogonadotropic hypogonadismARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DCCNTN1R1;18q21.2Kallmann syndrome; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia6Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DCC-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DDX2511q24.2Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DDX3YYq11.221AzoospermiaYLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DDX53Xp22.11Non-obstructive azoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DEFB12620p13Male infertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DHH12q13.1246,XY Differences of Sex Development (Pradel scale 4; 5 or 6); OMIM:233420ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DHH12q13.1246,XY Disorder of sex development (prader 4, 5 or 6)ARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DHX37N/A12q24.3146,XY Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:273250ADReproductive system syndrome/endocrine disorderNo semen11Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/DHX37-DSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DKK110q21.1HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DLX57q21.3Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DMC1LIM15, DMC1H22q13.1Non-obstructive azoospermia; OMIM:NA(PS258150)ARIsolated infertilityAzoospermia7.25Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DMC1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DMRT1DMT19p24.3Non-obstructive azoospermia; OMIM:NA(PS258150)ADIsolated infertilityAzoospermia10Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/DMRT1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DMXL2N/A15q21.2Kallmann syndrome; OMIM:NA (PS147950 )ARReproductive system syndrome/endocrine disorderUnclear≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/DMXL2-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DMXL2N/A15q21.2Isolated Hypogonadotropic Hypogonadism (normosmic); OMIM:NA (PS147950 )ARReproductive system syndrome/endocrine disorderUnclear≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/DMXL2-NCHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAAF2PF13, KTU14q21.3Primary ciliary dyskinesia; OMIM:612518ARSyndromic infertilityAsthenoteratozoospermia12.25Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/DNAAF2-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAAF4CILD25, DYX1, DYX1C1, DYXC1, EKN1, RD15q21.3Primary ciliary dyskinesia; OMIM:615482ARSyndromic infertilityAsthenoteratozoospermia13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/DNAAF4-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAAF5HEATR27p22.3Primary ciliary dyskinesia; OMIM:614874ARSyndromic infertilityAsthenoteratozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DNAAF6CILD36; PIH1D3; CXorf41; NYSAR97; TWISTERXq22.3Primary ciliary dyskinesia: OMIM:300991XLSyndromic infertilityAsthenoteratozoospermia: absent ODAs and reduced to absent IDAs15Stronghttp://www.imigc.org/wp-content/uploads/2021/08/DNAAF6-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH1HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-13p21.1Multiple morphological abnormalities of the sperm flagella; OMIM:617576ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/DNAH1-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH1HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-13p21.1AzoospermiaARIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/DNAH1-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH1HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-13p21.1AsthenoteratozoospermiaARIsolated infertilityAsthenoteratozoospermia6.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DNAH1-ATZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH1HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-13p21.1OligoasthenoteratozoospermiaARIsolated infertilityOligoasthenoteratozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/DNAH1-OAT-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH11DNAHC11, DNAHBL, DPL11, CILD77p15.3AsthenozoospermiaARSyndromic infertilityAsthenoteratozoospermia5.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DNAH11-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH17N/A17q25.3Multiple morphological abnormalities of the sperm flagella; OMIM:618643ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella15Stronghttp://www.imigc.org/wp-content/uploads/2021/08/DNAH17-MMAF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH2DNAHC2; DNHD3; KIAA150317p13.1Multiple morphological abnormalities of the sperm flagella; OMIM:619094ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella4.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DNAH2-MMAF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH5DNAHC5; HL1; CILD3; KTGNR; PCD; KIAA1603;5p15.2AsthenozoospermiaARIsolated infertilityAsthenozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/DNAH5-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH6NA2p11.2AzoospermiaARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/DNAH6-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH6na2p11.2Teratozoospermia; OMIM:NA (PS258150). Globozoospermia and acephalyARIsolated infertilityTeratozoospermia: globozoospermia, acephalic sperm3.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DNAH6-GZS_ACE-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH6NA2p11.2Multiple morphological abnormalities of the sperm flagella; OMIM:NA (PS258150)ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella4Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DNAH6-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAH917p12Primary ciliary dyskinesia: OMIM:NA (PS244400)ARSyndromic infertilityAsthenoteratozoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DNAI19p13.3Primary ciliary dyskinesia; OMIM:244400ARSyndromic infertilityAsthenoteratozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DNAI19p13.3AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DNAI217q25.1Primary ciliary dyskinesia; OMIM:612444ARSyndromic infertilityAsthenoteratozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DNAJB13CILD34; TSARG5; TSARG6; RSPH16A11q13.4Primary ciliary dyskinesia; OMIM:617091ARSyndromic infertilityOligoasthenoteratozoospermia8Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DNAJB13-PCD.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNAJB13CILD34; TSARG5; TSARG6; RSPH16A11q13.4AsthenozoospermiaARIsolated infertilityAsthenoteratozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/DNAJB13-ASZ.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNMT119p13.2Non-obstructive azoospermia; OMIM:NA(PS258150)ADIsolated infertilityAzoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DNMT3A2p23.3OligozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DNMT3BICF, ICF120q11.21Non-obstructive azoospermia; OMIM:NA (PS258150)ADIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/DNMT3B-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DNMT3L21q22.3Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DPP67q36.2AzoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DPY19L212q14.2Globozoospermia; OMIM:613958ARIsolated infertilityTeratozoospermia: globozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/DPY19L2-GZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DRC1CCDC164, CILD21, C2orf392p23.3Primary ciliary dyskinesia; OMIM: 615288ARSyndromic infertilityAsthenoteratozoospermia5.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DRC1-PCD.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DUSP6N/A12q21.33Kallmann syndrome; Hypogonadotropic hypogonadismADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia7Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DUSP6-NNH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
DYNLT3Xp11.4AzoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
DZIP1N/A13q32.1Multiple morphological abnormalities of the sperm flagella; OMIM:NA (PS258150)ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella6.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/DZIP1-MMAF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
E2F120q11.22Non-obstructive azoospermia; OMIM:NA(PS258150)ADIsolated infertilityAzoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EBF28p21.2Kallmann syndrome; hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EDNRB13q22.3Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EFNA55q21.3Hypogonadotropic hypogonadismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EGF4q25Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EGFR7p11.2Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EGR42p13.2Oligozoospermia and azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EIF1AYEIF-4C;Yq11.223Non-Obstructive AzoospermiaYLIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/EIF1AY-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
EIF4G1P220; EIF4F; EIF4G; EIF4GI; PARK18; EIF-4G13q27.1Asthenozoospermia; OMIM:NA (PS258150)ADIsolated infertilityAsthenozoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/EIF4G-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
EIF5A23q26.2Oligozoospermia and azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EMX210q26.11Kallmann syndrome; hypogonadotropic hypogonadismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EPHA54q13.1-q13.2Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EPHX2ABHD20; CEH; SEH;8p21.2-p21.1Non-obstructive AzoospermiaUndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/EPHX2-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
EPPIN20q13.12Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ERBB42q34Isolated Hypogonadotropic Hypogonadism; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ESR1ER, ESR, ESRA, ESTRR, Era, NR3A16q25.1-q25.246 XY Differences of Sex development OMIM gene 133430ADReproductive system syndrome/endocrine disorderUnclear3.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/ESR1-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ESR214q23.2-q23.3Oligozoospermia and azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ETV53q27.2Non-obstructive azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
EXT18q24.11OligozoospermiaADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FABP98q21.13TeratozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FAM47CN/AXp21.1Varicocele leading to oligozoospermia; OMIM:NA (PS258150)XLIsolated infertilityOligozoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/FAM47C-OS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FANCAFAA, FANCH, FACA, FA-H, FAH, FA1, FA16q24.3Occult Fanconi Anemia; OMIM:NA (PS227650)ARSyndromic infertilityAzoospermia10Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/FANCA-FA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FANCM14q21.2Oligozoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia, oligozoospermia13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/FANCM-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FATE1FATEXq28Oligoasthenozoospermia; OMIM:NA (PS258150)XLIsolated infertilityOligoasthenozoospermia2No evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FBXO43EMI2, Fbx438q22.2OligoasthenoteratozoospermiaARIsolated infertilityOligoasthenoteratozoospermia5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/FBXO43-TZS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FEZ111q24.2Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FEZF1ZNF312B, FEZ7q31.32Kallmann syndrome; OMIM:616030ARReproductive system syndrome/endocrine disorderAzoospermia8Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/FEZF1-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FGF105p12HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FGF17N/A8p21.3Kallmann syndrome; OMIM:615270ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia9Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/FGF17-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FGF17N/A8p21.3Isolated Hypogonadotropic Hypogonadism (normosmic); OMIM:615270ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia8Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/FGF17-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FGF185q35.1Kallmann syndromeUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FGF8AIGF10q24.32Kallmann syndrome; OMIM: 612702ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia10Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/FGF8-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FGF8AIGF10q24.32Isolated Hypogonadotropic Hypogonadism (normosmic); OMIM:612702ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia14Stronghttp://www.imigc.org/wp-content/uploads/2021/08/FGF8-IHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FGF810q24.32HypospadiasADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FGF913q12.1146,XX Differences of Sex DevelopmentADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FGFR1N/A8p11.23Kallmann syndrome; OMIM:147950ADReproductive system syndrome/endocrine disorderAzoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/FGFR1-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FGFR1KAL28p11.23Isolated Hypogonadotropic Hypogonadism (normosmic); OMIM:147950ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia17Definitivehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FGFR18p11.23Late-onset Hypogonadotropic HypogonadismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FGFR18p11.23Isolated cryptorchidismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FGFR210q26.13Isolated hypospadiasADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FHL56q16.1Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FKBP412p13.33HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FKBP6FKBP36;7q11.23Non-obstructive AzoospermiaARIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/FKBP6-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FKBPL6p21.32AzoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FLNAFLN1Xq28Periventricular nodular heterotopia; OMIM: 300049XLSyndromic infertilityNormozoospermia, oligozoospermia, azoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FLRT3HH2120p12.1Kallmann syndromeUndeterminedReproductive system syndrome/endocrine disorderUnclearN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/FLRT3-NHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FLRT3HH2120p12.1Hypogonaditropic hypogonadism; OMIM:615271UndeterminedReproductive system syndrome/endocrine disorderUnclearN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/FLRT3-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FOXL23q22.3Oligozoospermia in combination with Blepharophimosis, corneal vascularization, deafness, and acroosteolysisADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FOXP3SCURFIN, JM2Xp11.23Non obstructive azoospermia; Endocrinopathy; OMIM: 300292XLIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/FOXP3-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FSHBFSHbeta11p14.1Isolated Hypogonadotropic Hypogonadism; OMIM:229070ARReproductive system syndrome/endocrine disorderAzoospermia12.25Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/FSHB-HH-Combined-RC.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FSHRLGR1, FSHRO2p16.3Hypergonadotropic hypogonadism; OMIM:NA (PS147950)ARReproductive system syndrome/endocrine disorderAzoospermia11Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/FSHR-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FSIP2SPGF342q32.1Multiple morphological abnormalities of the sperm flagella; OMIM:618153ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella12Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/FSIP2-MMAF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
FTHL17Xp21.2AzoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FTO16q12.2OligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
FUS16p11.2Non-obstructive azoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GALNTL5N/A7q36.1Asthenozoospermia; OMIM:NA (PS258150)ADIsolated infertilityAsthenozoospermia7.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/GALNTL5-ASZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GAP433q13.31Kallmann syndromeUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GAPDHS19q13.12Multiple morphological abnormalities of the sperm flagella; OMIM:NA (PS258150)ARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GAS816q24.3Primary ciliary dyskinesia; OMIM:616726ARSyndromic infertilityAsthenoteratozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GATA4TACHD, ASD2, VSD1, TOF8p23.146,XY Differences of Sex Development (Prader scale 4; 5 or 6) resulting in anomalies of testicular development; OMIM:615542ADReproductive system syndrome/endocrine disorderAzoospermia13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/GATA4-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GFPT2GFAT, GFAT25q35.3No OMIM/AsthenozoospermiaARIsolated infertilityAsthenozoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/GFPT2-ASZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GGCXNA2p11.2No OMIM/AsthenozoospermiaARIsolated infertilityAsthenozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/GGCX-ASZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GGN19q13.2OligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GGN-19q13.2GlobozoospermiaARIsolated infertilityTeratozoospermia: globozoospermia3.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/GGN-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GH117q23.3Growth hormone deficiency; OMIM:262400/612781/173100ADReproductive system syndrome/endocrine disorderOligozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GHR5p13.1-p12Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GJA16q22.31Oligozoospermia in combination with Blepharophimosis, corneal vascularization, deafness, and acroosteolysisUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GJB213q12.11Oligozoospermia in combination with Blepharophimosis, corneal vascularization, deafness, and acroosteolysisADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GJB613q12.11Oligozoospermia in combination with Blepharophimosis, corneal vascularization, deafness, and acroosteolysisUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GLI3PHS; ACLS; GCPS; PAPA; PAPB; PAP-A; PAPA1; PPDIV; GLI3FL; GLI3-1907p14.1Hypospadias without infertility, OMIM gene 165240ADReproductive system syndrome/endocrine disorderVariable5.75Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/GLI3-HS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GLI37p14.1Kallmann syndromeADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GNRH1LHRH; GRH; GNRH; LNRH;8p21.2Isolated Hypogonadotropic Hypogonadism; OMIM:614841ARReproductive system syndrome/endocrine disorderAzoospermia13.5Stronghttp://www.imigc.org/wp-content/uploads/2021/08/GNRH1-IHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GNRH2GnRH-II; LH-RHII20p13Kallmann syndrome; OMIM:NA (PS147950)UndeterminedReproductive system syndrome/endocrine disorderUnclearN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/GNRH2-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GNRH2GnRH-II; LH-RHII20p13Normosmic Hypogonadotropic Hypogonadism; OMIM:NA (PS147950)UndeterminedReproductive system syndrome/endocrine disorderUnclearN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/GNRH2-NHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GNRHRGNRHR1, LHRHR, LRHR, HH7, GRHR4q13.2Isolated Hypogonadotropic Hypogonadism; OMIM:146110ARReproductive system syndrome/endocrine disorderAzoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/GNRHR-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
GOPC6q22.1GlobozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GPX419p13.3OligoasthenozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
GTF2H312q24.31Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia2No evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
H1-7H1-7, HANP1, H1T2, H1f712q13.11Azoospermia and oligozoospermiaARIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/H1FNT-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
H1911p15.5Sertoli cell only syndromeUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
H2AXH2AFX11q23.3Spermatogenic failureUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
H2BW1H2BFWTXq22.2Non-Obstructive AzoospermiaXLIsolated infertilityAzoospermia4Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/H2BFWT-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HASPIN17p13.2Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HAUS7UIP1Xq28Severe oligozoospermia; OMIM:NA (PS258150)XLIsolated infertilityAzoospermia, oligozoospermia3.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/HAUS7-AZS+OZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HESX1N/A3p14.3Kallmann syndrome; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderUnclear7.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/HESX1-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HFE6p22.2Hypogonadism due to iron excessARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HGF7q21.11Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HLA-DPB1DPB1; HLA-DP; HLA-DPB; HLA-DP1B6p21.32Non-obstructive azoospermia; OMIM 142858UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/HLA-DPB1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HLA-DQB1IDDM1; CELIAC1; HLA-DQB6p21.32Non obstructive azoospermia, OMIM gene 64305UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/HLA-DQB1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HLA-DRB1DRB1, SS16p21.32Non-obstructive azoospermia?Isolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/HLA-DRB1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HMGB24q34.1Testicular failureUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOOK11p32.1Acephalic spermARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HORMAD11q21.3Non-obstructive azoospermia due to Meiotic arrestARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXA107p15.2CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXA117p15.2CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXA137p15.2CryptorchidismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXA47p15.2CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXA97p15.2CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXB1317q21.32CryptorchidismARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXB617q21.32HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXB917q21.32CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXC1012q13.13CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXC1112q13.13CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXC1212q13.13CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXC1312q13.13CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXC912q13.13CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXD102q31.1CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXD112q31.1CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXD122q31.1CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HOXD13N/A2q31.1CryptorchidismADReproductive system syndrome/endocrine disorderUnclear4.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/HOXD13-HS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HOXD92q31.1CryptorchidismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HRAS11p15.5CryptorchidismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HS6ST1N/A2q14.3Kallmann syndrome; OMIM:614880ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia9.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/HS6ST1-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HS6ST12q14.3Normosmic hypogonadotropic hypogonadism; OMIM:614880ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia7Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/HS6ST1-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HSD17B3N/A9q22.3246,XY Differences of Sex Development (Prader scale 4; 5 or 6) resulting in anomalies of testicular development; OMIM:264300ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/HSD13B3-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HSD17B4NA5q23.1Non-Obstructive AzoospermiaARIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/HSD17B4-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HSD3B2SDR11E2, HSDB, HSD3B1p12Adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency; OMIM:201810ARReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia16.5Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/HSD3B2-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HSF2HSTF26q22.31Non-obstructive azoospermia; OMIM:NA (PS258150)ADIsolated infertilityAzoospermia8Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/HSF2-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
HSFY1Yq11.222AzoospermiaYLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HSP90AA114q32.31VaricoceleUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
HYDIN16q22.2Primary ciliary dyskinesia; OMIM:608647; asthenozoospermia OMIM:NA (PS258150)ARSyndromic infertilityAsthenoteratozoospermia6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
IFT140KIAA0590; WDTC2; C305C8.4; C380F5.1; MZSDS; SRTD9; RP80;16p13.3OligoasthenoteratozoospermiaARIsolated infertilityOligoasthenoteratozoospermia4Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/IFT140-OAT-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
IGF112q23.2Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
IGF2RMPRI; MPR300; CD222; CIMPR; MPR1; M6PR;6q25.3Non-obstructive AzoospermiaUndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/IGF2R-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
IGFALSALS; ACLSD16p13.3Kallman syndrome, OMIM gene 601489ARReproductive system syndrome/endocrine disorderAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/IGFALS-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
IGSF10CMF608 3q25.1Delayed puberty; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia9.25Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/IGSF10-CHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
IL17RDSEF3p14.3Kallmann syndrome with hearing loss; OMIM:615267ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia14.5Stronghttp://www.imigc.org/wp-content/uploads/2021/08/IL17RD-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
IL17RDSEF3p14.3Normosmic hypogonadotropic hypogonadism; OMIM:615267ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/IL17RD-IHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ING2ING1L4q35.1Non-obstructive azoospermiaARIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/ING2-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
INSL3NA19p13.11Cryptorchidism; OMIM:219050ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia12Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/INSL3-CO-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
INSL69p24.1Asthenozoospermia/cryptorchidismARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
IZUMO119q13.33Fertilization failureARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
JAG120p12.2Isolated Hypogonadotropic Hypogonadism; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia2No evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KASH5CCDC15519q13.33Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia4Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KATNAL113q12.3Non-obstructive azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KATNB116q21OligoasthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KCNQ111p15.5-p15.4Sertoli cell only syndromeUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KDM3A2p11.2Oligozoospermia; OMIM:NA (PS258150)ADIsolated infertilityOligozoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KIF2CKNSL6; MCAK; CT139;1p34.1Non-obstructive AzoospermiaARIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/KIF2C-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
KISS11q32.1Central Precocious PubertyARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KISS11q32.1Kallmann syndrome; with or without anosmiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KISS1RAXOR12, CPPB1, GPR54, HH8, HOT7T175, KISS-1R19p13.3Kallmann syndrome; OMIM:614837ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia9Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/KISS1R-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
KISS1RAXOR12, CPPB1, GPR54, HH8, HOT7T175, KISS-1R19p13.3Isolated Hypogonadotropic Hypogonadism (normosmic); OMIM:614837ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/KISS1R-NHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
KISS1RAXOR12, CPPB1, GPR54, HH8, HOT7T175, KISS-1R19p13.3AzoospermiaARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/KISS1R-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
KIT4q12AzoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLB4p14Hypogonadotropic hypogonadismARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLF610p15.2HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLHL10SPGF11; FLJ3266217q21.2Oligozoospermia; OMIM:615081ADIsolated infertilityOligozoospermia10.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/KLHL10-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
KLK1219q13.41Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLK1419q13.41Male infertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLK1519q13.33Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLK319q13.33Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLK419q13.41Male infertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLK619q13.41Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLK719q13.41Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KLK819q13.41Male infertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
KRAS12p12.1CryptorchidismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
LEP7q32.1Hypogonadotropic hypogonadismARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
LEPR1p31.3Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
LHBCGB4; HH23; LSH-B; LSH-beta19q13.33Isolated Hypogonadotropic hypogonadism; OMIM:228300ARReproductive system syndrome/endocrine disorderAzoospermia16.5Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/LHB-CHH-RB-RA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
LHCGRHHG; LHR; LCGR; LGR2; ULG5; LHRHR; LSH-R; LH/CGR; LH/CG-R2p16.3Leydig cell dysfunction with hypogonadism; OMIM:238320ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia16.5Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/LHCGR-LCD-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
LHCGRHHG; LHR; LCGR; LGR2; ULG5; LHRHR; LSH-R; LH/CGR; LH/CG-R2p16.3Male precocious puberty; OMIM:176410ADReproductive system syndrome/endocrine disorderOligozoospermia, normozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/LHCGR-MPP-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
LHX3N/A9q34.3Kallmann syndrome; OMIM:221750ARReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia8Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/LHX3-CHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
LHX4CPHD41q25.2Hypogonadotropic hypogonadismUndeterminedReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/LHX4-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
LHX4CPHD41q25.2Combined pituitary hormone deficiencyUndeterminedReproductive system syndrome/endocrine disorderN/AN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/LHX4-CPHD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
LHX4CPHD41q25.2Non-Obstructive AzoospermiaUndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/LHX4-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
LHX91q31.346,XY Differences of Sex DevelopmentADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
LIF22q12.2Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
LIMK222q12.2Testicular failureARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
LIPE19q13.2Testicular failureARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
LRRC6TSLRP, LRTP8q24.22Primary ciliary dyskinesia; OMIM:614935ARSyndromic infertilityAsthenoteratozoospermia13.5Stronghttp://www.imigc.org/wp-content/uploads/2021/08/LRRC6-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
LRWD17q22.1Sertoli cell only syndromeUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
LSM64q31.22AzoospermiaADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
M1APC2orf65, D6Mm5e, SPATA372p13.1Non-obstructive azoospermia; OMIM:619108ARIsolated infertilityAzoospermia, severe oligozoospermia13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/M1AP-OZS+AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MAELSPATA35; CT128;1q24.1Non-obstructive AzoospermiaARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/MAEL-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MAGEB4Xp21.2Non-obstructive azoospermia; OMIM:NA (PS258150)XLIsolated infertilityAzoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MAMLD1CG1; F18; HYSP2; CXorf6Xq2846,XY Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:300758XLReproductive system syndrome/endocrine disorderUnclear15Stronghttp://www.imigc.org/wp-content/uploads/2021/08/MAMLD1-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MAP2K115q22.31CryptorchidismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MAP2K219p13.3Cryptorchidism; OMIM:NA (PS258150)ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MAP3K15q11.246,XY Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:613762ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MAP7D3MDP3, Mtap7d3, FLJ12649Xq26.3Non-obstructive azoospermiaXLIsolated infertilityAzoospermia4.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/MAP7D3-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MASTL10p12.1Hypogonadotropic HypogonadismARN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MC4R18q21.32Obesity with hypogonadotropic hypogonadism; OMIM:601665ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MCM820p12.3AzoospermiaARN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MCM9MCMDC1, C6orf61, DJ329L24.3, ODG4, HMCM96q22.31Non obstructive azoospermia, OMIM: 610098ARIsolated infertilityAzoospermia5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/MCM9-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MEI1NA22q13.2Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/MEI1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MEIG110p13Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MEIOBSPGF22, C16orf73,16p13.3Non-obstructive azoospermia; OMIM:617706ARIsolated infertilityAzoospermia7.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/MEIOB-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MET7q31Hypogonadotropic HypogonadismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MGPMGLAP; GIG36; NTI;12p12.3Asthenozoospermia; OMIM: 137167ARIsolated infertilityAsthenozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/MGP-ASZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MIER35q11.246,XY Differences of Sex DevelopmentUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MLH3HNPCC714q24.3Non-obstructive azoospermia due to Meiotic arrestARIsolated infertilityAzoospermia7Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/MLH3-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MNS1N/A15q21.3Asthenoteratozoospermia; OMIM:NA (PS258150)ARSyndromic infertilityAsthenozoospermia9.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/MNS1-ATZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MORC1CT33, ZCW6, MORC3q13.13Non-obstructive azoospermia; OMIM: 603205UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/MORC1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MSH41p31.1Maturation arrestARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-ATP6mitochondriaVaricocele/OligoasthenoteratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-ATP8mitochondriaVaricocele/OligoasthenoteratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-CO1mitochondriaAsthenozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-CO2mitochondriaAsthenozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-CO3mitochondriaVaricocele/OligoasthenoteratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-CYBmitochondriaAsthenozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MTHFRNA1p36.22Non-obstructive azoospermia; OMIM:617706UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/MTHFR-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MT-ND1mitochondriaMale infertilityNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-ND2mitochondriaOligoasthenoteratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-ND3mitochondriaVaricocele/OligoasthenoteratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-ND4mitochondriaAsthenozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-ND4LmitochondriaVaricoceleNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-ND5mitochondriaOligoasthenoteratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MTOR1p36.22Isolated Hypogonadotropic hypogonadism; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-RNR1mitochondriaAsthenozoospermia and teratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-RNR2mitochondriaAsthenozoospermia and teratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MTRRMSR; CblE;5p15.31Non-obstructive AzoospermiaARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/MTRR-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
MT-TGmitochondriaVaricoceleNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-THmitochondriaAsthenozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-TKmitochondriaOligoasthenoteratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-TL1mitochondriaAsthenozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-TRmitochondriaVaricoceleNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MT-TS1mitochondriaOligoasthenoteratozoospermiaNAN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
MYRF11orf9, C11orf9, CUGS, MMERV, MRF, Ndt80, pqn-4711q12.246XY Development of Sexual Differences, OMIM gene 608329ADReproductive system syndrome/endocrine disorderUnclear14.5Stronghttp://www.imigc.org/wp-content/uploads/2021/08/MYRF-46XY,DSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NANOS1NANOS, NOS10q26.11Non-obstructive azoospermia; OMIM: 608226; Spermatogenic failure 12 (615413)ADIsolated infertilityAzoospermia3.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/NANOS1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NANOS219q13.32Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NANOS319p13.12Azoospermia and oligozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NDNFC4orf31, NORD, z-ndnf4q27Kallmann syndromeADReproductive system syndrome/endocrine disorderAzoospermia8Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/NDNF-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NECTIN219q13.32TeratozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NECTIN33q13.13TeratozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NLRP14NALP14; NOD5; GC-LRR; PAN811p15.4Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/NLRP14-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NLRP3NA1q44Muckle-Wells Syndrome; OMIM:191900ADSyndromic infertilityAzoospermia, oligozoospermia9Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/NLRP3-MWS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NNT5p12Primary Adrenal Insufficiency with precocious puberty; OMIM:614736ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NOS112q24.22Isolated Hypogonadotropic hypogonadism; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia4Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NOTCH19q34.3Isolated Hypogonadotropic hypogonadism; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NOTCH21p12Persistent mullerian duct syndromeADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NPAS22q11.2Non-obstructive azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NPFFR110q22.1Gonadotrophin-releasing hormone-dependent pubertal disordersARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NPVF7p15.3Gonadotrophin-releasing hormone-dependent pubertal disordersARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NPY1R4q32.2Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NR0B1DAX1Xp21.2Congenital Adrenal Hypoplasia; OMIM:300200XLReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/NR0B1-AHC-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NR0B1DAX1Xp21.2Late-onset adrenal failure or isolated hypogonadotropic hypogonadism; OMIM:NA (PS147950)XLReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia17Definitivehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NR0B1AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2Xp21.246,XX Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:NAXLReproductive system syndrome/endocrine disorderAzoospermia5.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/NR0B1-46XXDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NR0B1AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2Xp21.2Non-obstructive azoospermia, OMIM gene 300473XLIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/NR0B1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NR5A1FTZF1, FTZ1, SF1, AD4BP, STF-1, HSF-19q33.346,XY Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:612965ADReproductive system syndrome/endocrine disorderAzoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/NR5A1-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NR5A1FTZF1, FTZ1, SF1, AD4BP, STF-1, HSF-19q33.346,XX Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:617480ADReproductive system syndrome/endocrine disorderAzoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/NR5A1-46XXDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NR5A1FTZF1, FTZ1, SF1, AD4BP, STF-1, HSF-19q33.3Isolated spermatogenic failure; OMIM:184757ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia14Stronghttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NRAS1p13.2Cryptorchidism; OMIM:NA (PS258150)ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NRP110p11.22Hypogonadotropic hypogonadismADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NRP22q33.3Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NSMFNELF9q34.3Kallmann syndrome; OMIM:614838ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NSMFNELF; HH9;9q34.3Isolated hypogonadotropic hypogonadism (normosmic); OMIM:614838ADReproductive system syndrome/endocrine disorderAzoospermia6.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/NSMF-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
NSUN74p14AsthenozoospermiaARN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NTN117p13.1Kallmann syndrome; with or without anosmiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
NXF2Xq22.1Non-obstructive azoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
OAZ31q21.3AzoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ODF1N/A8q22.3Non-obstructive azoospermia; OMIM:NA (PS258150)UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/ODF1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
OFD1CXORF5Xp22.2Primary cilia dyskinesia; OMIM: 300170XLSyndromic infertilityUnclearN/AContradictoryhttp://www.imigc.org/wp-content/uploads/2021/08/OFD1-PCD.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
OR1D2OLFR1, HGMP07E, OR17-417p13.3OMIM: 164342; non-obstructive azoospermiaARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/OR1D2-Chemotaxis-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
OTUD4KIAA1046; HSHIN1; DUBA6; HIN14q31.21Kallmann syndromeUndeterminedReproductive system syndrome/endocrine disorderAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/OTUD4-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
OTX214q22.3Hypogonadotropic hypogonadismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
OXCT21p34.2Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PACRG6q26Male infertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PANK220p13Congenital bilateral absence of vas deferens; OMIM:NA (PS277180)ARIsolated infertilityAzoospermia4Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PAPOLBPAPT, TPAP7p22.1Non-obstructive azoospermia; OMIM:NA (PS258150)UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/PAPOLB-SCOS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PAX611p13Hypogonadotropic hypogonadismADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PCDH104q28.3AzoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PCSK15q15Kallmann syndromeARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PDE3A12p12.2Kallmann syndromeADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PDHA24q22.3Complex digit malformation in combination; OMIM:NAARSyndromic infertilityAzoospermia, oligozoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PGAM4Xq21.1Non-obstructive azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PICK122q13.1GlobozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PIN119p13Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PIWIL1HIWI12q24.33Non-Obstructive AzoospermiaARIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/PIWIL1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PIWIL2CT80; HILI8p21.3Sertoli-cell onlyARIsolated infertilityAzoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/PIWIL2-SCOS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PIWIL4HIWI2; MIWI2; FLJ36156; PIWI11q21Non-obstructive AzoospermiaARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/PIWIL4-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PKD1PBP; PC1; Pc-1; TRPP1; polycystin-116p13.3Polycystic kidney disease and asthenozoospermia; OMIM:173900ADSyndromic infertilityOligozoospermia, asthenozoospermia11.25Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/PKD1-ASZ+OZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PKD1PBP; PC1; Pc-1; TRPP1; polycystin-116p13.3Polycystic kidney disease and azoospermia; OMIM:173900ADSyndromic infertilityAzoospermia7.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/PKD1-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PLA2G622q13.1AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PLCZ1NYD-SP27, PLCzeta12p12.3Fertilization failure; OMIM:617214ARIsolated infertilityNormozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/PLCZ1-FF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PLEKHA512p12.3Kallmann syndrome; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia2No evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PLK44q28.1Azoospermia; OMIM:NA (PS258150)ADIsolated infertilityAzoospermia7Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PLOD1LLH, LH, LH1,1p36.22Male infertilityARIsolated infertilityUnclearN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/PLOD1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PLXNA1PLXN1, NOVP3q21.3Kallmann syndrome; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia13.5Stronghttp://www.imigc.org/wp-content/uploads/2021/08/PLXNA1-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PLXNB13p21.31Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PMFBP1STAP; SPGF3116q22.2Acephalic spermatozoa; OMIM:618112ARIsolated infertilityAsthenoteratozoospermia14Stronghttp://www.imigc.org/wp-content/uploads/2021/08/PMFBP1-ACE-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PNPLA6NTE19p13.2Kallmann syndromeARReproductive system syndrome/endocrine disorderAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/PNPLA6-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
POLGN/A15q26.1Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/POLG-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
POLR3AN/A10q22.3Kallmann syndrome; OMIM:NA (PS147950)ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/POLR3A-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
POLR3B12q23.3Isolated hypogonadotropic hypogonadism; OMIM:NA (PS147950)ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia2No evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
POR7q11.23Testicular regression syndromeARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
POU1F1GHF-1; GHF1; POU1F1a; PIT-1; PIT1; CPHD1;3p11.2Combined Pituitary Hormone Deficiency; OMIM:613038ARReproductive system syndrome/endocrine disorderAzoospermia, severe oligozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/POU1F1-CPHD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
POU3F26q16.1Hypogonadotropic hypogonadismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PPP1CC12q24.11Testicular failureADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PPP2R3CC14orf10; G4-1; G5PR; FLJ20644; SPGF36; GDRM;14q13.2TeratozoospermiaADIsolated infertilityAsthenoteratozoospermia2.75Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/PPP2R3C-TSZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PRDM95p14.2Non-obstructive azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PRKAR1A17q24.2Carney complex with oligoteratozoospermia or azoospermiaADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PRM116p13.13Oligozoospermia or azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PRM2CT94.216p13.13Oligozoospermia or azoospermiaUndeterminedIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/PRM2-AZS-OZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PRM2CT94.216p13.13TeratozoospermiaUndeterminedIsolated infertilityTeratozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/PRM2-TZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PRM316p13.13Oligozoospermia or azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PROK2PK2, BV83p13Kallmann syndrome; OMIM:610628ARReproductive system syndrome/endocrine disorderNo semen11.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/PROK2-CHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PROKR2GPR73L1, PRK220p12.3Kallmann syndrome; OMIM:244200ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/PROKR2-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PROP1N/A5q35.3Pituitary hormone deficiency; OMIM:262600ARReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/PROP1-CPHD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
PSMC3IP17q21.2Azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PTN7q33HypospadiasUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PTPN1112q24.13CryptorchidismADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PUM22p24.1Spermatogenic failureADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
PYGO2NA1q21.3Oligozoospermia or azoospermiaADIsolated infertilityAzoospermia, oligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/PYGO2-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
QRICH2N/A17q25.1Azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/QRICH2-AZS.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
QRICH2N/A17q25.1Multiple morphological abnormalities of the sperm flagella; OMIM:618341ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella12Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/QRICH2-MMAF.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RAD21L120p13Non-obstructive azoospermia due to Sertoli cell only and meiotic arrestUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RAF1NA3p25.2CryptorchidismADIsolated infertilityNormozoospermia3.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/RAF1-TT-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RB1PPP1R130; P110-RB1; P105-Rb; Pp110; PRb; RB; OSRC;13q14.2AzoospermiaARIsolated infertilityAzoospermia, severe oligozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/RB1-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RBMXXq26.3Non-obstructive azoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RBMXL2HNRNPGT11p15.4Non-obstructive azoospermia; OMIM:605444ADIsolated infertilityAzoospermia4.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/RBMXL2-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RBMY1A1Yq11.223AzoospermiaYLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RD31q32.3Hypogonadotropic hypogonadism and Kallmann syndromeARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
REC8REC8L114q12Azoospermia; OMIM:NA (PS258150)ADIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/REC8-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RELN7q22.1Isolated Hypogonadotropic hypogonadism; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RHOXF1Xq24Severe oligozoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RHOXF2Xq24Severe oligozoospermiaXLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RHOXF2BXq24Severe oligozoospermiaXLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RNF1713q12.12Non-obstructive azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RNF212ZHP3, FLJ388414p16.3Non-obstructive azoospermia with meiotic arrestARIsolated infertilityAzoospermia7Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/RNF212-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RNF2201p34.1Small-headed sperm; OMIM: NA (PS258150)ARIsolated infertilityTeratozoospermia: Small-headed sperm5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RNF8hRNF86p21.2Non-obstructive azoospermia, OMIM gene 611685UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/RNF8-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ROBO311q24.2Hypogonadotropic HypogonadismARN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ROCK118q11.146,XX Differences of Sex DevelopmentADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RPL10LRPL10_5_135814q21.2Severe oligozoospermia; no OMIM IDARIsolated infertilityOligozoospermia5.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/RPL10L-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RSPH121q22.3Primary ciliary dyskinesia; OMIM:615481ARSyndromic infertilityAsthenoteratozoospermia6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
RSPH3RSHL2, RSP36q25.3Primary ciliary dyskinesia; OMIM:616481ARSyndromic infertilityAsthenoteratozoospermia10.25Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/RSPH3-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RSPH9MRPS18AL1; C6orf206; CILD12; FLJ30845;6p21.1Primary ciliary dyskinesia; OMIM:612650ARSyndromic infertilityAsthenoteratozoospermia7.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/RSPH9-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RSPO1FLJ40906, RSPO1p34.3Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; OMIM:610644ARReproductive system syndrome/endocrine disorderAzoospermia12Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/RSPO1-46XXDSD-Combined-RC.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
RXFP2GPR106, GREAT, INSL3R, LGR8, LGR8.1, RXFPR213q13.1Cryptorchidism; OMIM:NA (PS258150)ARReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia7Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/RXFP2-CO-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SALL4DRRS, HSAL4, ZNF79720q13.2Non-obstructive azoospermiaADIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SALL4-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SBF122q13.33Testicular failureUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SCAPERN/A15q24.3Bardet-Biedl syndrome with infertility; OMIM:NA (PS209900)ARSyndromic infertilityAzoospermia6.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/SCAPER-BB-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SDHA5p15.33Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SDHB1p36.13Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SDHC1q23.3Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SDHD11q23.1Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SECISBP29q22.2Selenoprotein deficiency disorder; OMIM:NAARSyndromic infertilityAzoospermia7Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SEMA3ASEMAD, COLL1, SEMAL7q21.11Kallmann syndrome; OMIM:614897ADReproductive system syndrome/endocrine disorderAzoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/SEMA3A-CHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SEMA3EKIAA0331; SEMAH;7q21.11Kallmann syndromeADReproductive system syndrome/endocrine disorderAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/SEMA3E-IHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SEMA4D9q22.2Hypogonadotropic HypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SEMA7AJMH; CD108; SEMAL; CDw108; SEMAK1; H-Sema-L; H-SEMA-K115q24.1Kallmann syndrome; OMIM:NA (PS147950)UndeterminedReproductive system syndrome/endocrine disorderUnclearN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SEMA7A-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SEMA7AJMH; CD108; SEMAL; CDw108; SEMAK1; H-Sema-L; H-SEMA-K115q24.1Hypogonadotropic HypogonadismUndeterminedReproductive system syndrome/endocrine disorderUnclearN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SEMA7A-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SEMG120q13.12AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SEMG220q13.12AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SEPTIN12SPGF10, SEPT12; OMIM: 61156216p13.3Multiple morphological abnormalities of the sperm flagella; OMIM:614822ADIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella11.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/SEPT12-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SEPTIN12SPGF10, SEPT12; OMIM: 61156216p13.3Non-obstructive azoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SEPTIN14SEPT147p11.2Teratozoospermia; OMIM:NA (PS258150)ARIsolated infertilityTeratozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/SEPT14-TZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SERPINA514q32.13Azoospermia and teratozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SIN3A15q24.2AzoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SLC10A74q31.22Hypogonadotropic hypogonadismUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SLC26A37q22.3-q31.1Congenital chloride diarrhea; OMIM:214700ARSyndromic infertilityOligoasthenoteratozoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SLC26A86p21.31AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SLC34A24p15.2Testicular MicrolithiasisARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SLC9A3NHE3; DIAR8; NHE-35p15.33Congential bilateral absence of the vas deferens, OMIM gene 182307ARIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SLC9A3-CBAVD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SLC9C13q13.2AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SLIT24p15.31Isolated hypogonadotropic hypogonadism (normosmic); OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia2No evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SOHLH19q34.3Non-obstructive azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SONSON3; BASS1; DBP-5; NREBP; TOKIMS; C21orf5021q22.11Non-obstructive azoospermia, OMIM gene 182465UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SON-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOS12p22.1Cryptorchidism; OMIM:NA (PS258150)ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia4Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SOX10DOM, PCWH, WS2E, WS4, WS4C22q13.1Kallmann syndrome; OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/SOX10-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX10DOM, PCWH, WS2E, WS4, WS4C22q13.1Non-obstructive azoospermiaUndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SOX10-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX10DOM, PCWH, WS2E, WS4, WS4C22q13.1Isolated normosmic hypogonadotropic hypogonadism, OMIM gene 602229ADReproductive system syndrome/endocrine disorderUnclear3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/SOX10-IHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX2N/A3q26.33Isolated hypogonadotropic hypogonadism (normosmic); OMIM:NA (PS147950)ADReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/SOX2-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX3N/AXq27.146,XX Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:NAXLReproductive system syndrome/endocrine disorderAzoospermia13Stronghttp://www.imigc.org/wp-content/uploads/2021/08/SOX3-46XXDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX3N/AXq27.1Isolated Hypogonadotropic hypogonadism; OMIM:NA (PS147950)XLReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia4.75Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/SOX3-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX5N/A12p12.1Non-obstructive azoospermia; OMIM:NA (PS258150)ADIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SOX5-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX8SRY-Box 816p13.3Azoospermia; OMIM:NA (PS258150) or oligozoospermia; OMIM:NA (PS258150)ADIsolated infertilityAzoospermia, oligozoospermia4Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/SOX8-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX9SRA1; SRXY10; CMPD1; SRXX2; CMD1; SOX9;17q24.346,XX Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:NAADReproductive system syndrome/endocrine disorderAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SOX9-46XXDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SOX9SRA1; SRXY10; CMPD1; SRXX2; CMD1; SOX9;17q24.346,XY Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:NAADReproductive system syndrome/endocrine disorderAzoospermia13.5Stronghttp://www.imigc.org/wp-content/uploads/2021/08/SOX9-46XY-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SPACA16q15GlobozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPACA317q11.2InfertilityARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPAG162q34AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPAG171p12Asthenozoospermia; OMIM:NA (PS258150)ARIsolated infertilityAsthenozoospermia4Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPAG6pf16; CT141; FAP194; CFAP194; Repro-SA-110p12.2Primary ciliary dyskinesia with asthenoteratozoospermia; OMIM:NA (PS244400)ARSyndromic infertilityAsthenoteratozoospermia7.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/SPAG6-PCD+ATZ-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SPATA16NYD-SP12, SPGF63q26.31Globozoospermia; OMIM:102530ARIsolated infertilityTeratozoospermia: globozoospermia8Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/SPATA16-GLB-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SPATA171q41Non-obstructive azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPATA3316q24.3Non-obstructive azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPEF2KPL2; CT122; SPGF435p13.2Multiple morphological abnormalities of the sperm flagella; OMIM:618751ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella14.75Stronghttp://www.imigc.org/wp-content/uploads/2021/08/SPEF2-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SPEF2KPL2; CT122; SPGF435p13.2Primary ciliary dyskinesia with multiple morphological abnormalities of the sperm flagellum; OMIM:618751ARSyndromic infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella12Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/SPEF2-PCD-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SPINK24q12Non-obstructive azoospermia; OMIM:NAARIsolated infertilityAzoospermia7Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPO1120q13.31Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPRY213q31.146,XX Differences of Sex DevelopmentADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SPRY4N/A5q31.3Hypogonadotropic Hypogonadism; OMIM:615266UndeterminedReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SPRY4-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SPRY4N/A5q31.3Kallmann syndrome; OMIM:615266UndeterminedReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/SPRY4-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SRA15q31.3Isolated Hypogonadotropic hypogonadism; OMIM:NA (PS147950)ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia3Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SRD5A2N/A2p23.146,XY Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:264600ARReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/SRD5A2-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SRYNAYp11.246,XX Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:400045YLReproductive system syndrome/endocrine disorderAzoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/SRY-46XXDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SRYNAYp11.246,XY Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:400044YLReproductive system syndrome/endocrine disorderAzoospermia17Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/SRY-46XYDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SRYYp11.2Isolated oligoasthenoteratozoospermia or azoospermia; OMIM:NA (PS258150)YLIsolated infertilityOligoasthenoteratozoospermia, azoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
STAG3-7q22.1Non-obstructive Azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia11.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/STAG3-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
STARN/A8p11.23Lipoid adrenal hyperplasia; OMIM:201710ARReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia10Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/STAR-CLAH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
STK362q35Primary ciliary dyskinesia; OMIM:NA (PS244400)ARSyndromic infertilityAsthenoteratozoospermia6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
STRA87q33Non-obstructive azoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
STRC15q15.3Asthenozoospermia with deafnessARN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
STSXp22.31Hypogonadotropic hypogonadismXLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
STX212q24.33Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
STYX14q22.1Testicular failureADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
SUN5SPAG4L, SPGF16, TSARG4, dJ726C3.120q11.21Acephalic sperm; OMIM:617187ARIsolated infertilityTeratozoospermia: Acephalic sperm16.75Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/SUN5-ACE-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SYCE1CT76; POF12; SPGF15; C10orf9410q26.3Non-obstructive azoospermia; OMIM:616950ARIsolated infertilityAzoospermia8.25Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/SYCE-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SYCE1LNA16q23.1Non obstructive azoospermiaARIsolated infertilityAzoospermia, oligozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/SYCE1L-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SYCP2SCP2; HsSCP2; SPGF1;20q13.33Severe Oligozoospermia; OMIM:258150ADIsolated infertilityAzoospermia, severe oligozoospermia10.75Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/SYCP2-OZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
SYCP3SCP3, RPRGL4, SPGF4, SCP-3, COR112q23.2Non-obstructive azoospermia; OMIM:270960ADIsolated infertilityAzoospermia14Stronghttp://www.imigc.org/wp-content/uploads/2021/08/SYCP3-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TAC312q13.3Kallmann syndrome; OMIM:614839ARReproductive system syndrome/endocrine disorderAzoospermia, oligozoospermia7Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TACR3NK3R, HH11, NK3, NKR4q24Kallmann syndrome; OMIM:614840ARReproductive system syndrome/endocrine disorderAzoospermia16.5Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/TACR3-CHH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TAF4BTAFII105; TAF2C2; SPGF13;18q11.2Non-obstructive azoospermia; OMIM:615841ARIsolated infertilityAzoospermia6.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/TAF4B-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TAF7LXq22.1AzoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TBPL16q23.2Testicular failureADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TDRD66p12.3Oligoasthenoteratozoospermia; OMIM:NA (PS258150)ARIsolated infertilityOligoasthenoteratozoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TDRD7NA9q22.33Cataract with non-obstructive azoospermia; OMIM:613887ARSyndromic infertilityAzoospermia8Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/TDRD7-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TDRD914q32.33Non-obstructive azoospermia; OMIM:NA (PS258150)ARIsolated infertilityAzoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TEKT21p34.3AsthenozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TEP1TP1; TLP1; p240; TROVE1; VAULT214q11.2Non-obstructive azoospermia, OMIM gene 601686UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/TEP1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TEX101SGRG; TES101RP19q13.31Sperm migration failure in the oviduct; OMIM: 612665; unexplained infertilityARIsolated infertilityUnclear≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/TEX101-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TEX11MZIP4, SPGFX2, Spo22, TGC1, TSGA3, ZIP4Xp11Non-obstructive azoospermia; OMIM:309120XLIsolated infertilityAzoospermia, oligozoospermia16Definitivehttp://www.imigc.org/wp-content/uploads/2021/08/TEX11-AZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TEX13AXq22.3AzoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TEX13BXq22.3AzoospermiaXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TEX14N/A17q22Non-obstructive azoospermia; OMIM:617707ARIsolated infertilityAzoospermia10.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/TEX14-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TEX15CT42; SPGF258p12Non-obstructive azoospermia; OMIM:617960ARIsolated infertilityAzoospermia, oligozoospermia13.5Stronghttp://www.imigc.org/wp-content/uploads/2021/08/TEX15-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TLE49q21.31Hypogonadotropic hypogonadismADN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TNP12q35Oligozoospermia or varicoceleARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TNP2TP216p13.13Oligozoospermia or azoospermia, OMIM gene 190232ARIsolated infertilityAzoospermia, oligozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/TNP2-OZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TP53BMFS5, TRP53, BCC717p13.1Non-obstructive azoospermia; OMIM: 191170ADIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/TP53-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TP53BP153BP1; TDRD30; P53BP1; P202;15q15.3Non-obstructive AzoospermiaARIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/TP53BP1-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TP63AIS; KET; LMS; NBP; RHS; p40; p51; p63; EEC3; OFC8; p73H; p73L; SHFM4; TP53L; TP73L; p53CP; TP53CP; B(p51A); B(p51B)3q28Male infertility (azoo/oligo/terato/asthenozoospermia) OMIM gene 603273ADIsolated infertilityOligoasthenoteratozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/TP63-MI-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TP73P73; TRP731p36.32Non-obstructive azoospermia; OMIM:601990ADIsolated infertilityAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/TP73-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TRAPPC98q24.3Hypogonadotropic hypogonadism and Kallmann syndromeARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TRIM37MUL, POB1, TEF317q22Mulibrey nanism; OMIM:253250ARSyndromic infertilityAzoospermia, severe oligozoospermia10Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/TRIM37-MUL-Combined-RF-RA.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TSC22D3Xq22.3Sertoli cell only syndromeXLN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TSGA10SPGF26, CT792q11.2Acephalic spermatozoa; OMIM:617961ARIsolated infertilityTeratozoospermia: acephalic sperm10.25Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/TSGA10-ACE-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TSPAN1112p11.21Hypogonadotropic hypogonadism and Kallmann syndromeUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TSPY1Yp11.2Male infertilityYLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TSPYL16q22.1Azoospermia/Disorder of Sex DevelopmentUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TSPYL58q22.1AzoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TSSK1BN/A5q22.2Asthenoteratozoospermia; OMIM:NA (PS258150)UndeterminedIsolated infertilityAsthenoteratozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/TSSK1B-MI-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TSSK222q11.21Male infertilityUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TSSK414q12Azoospermia and oligozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TTC12TPARM; FLJ13859; FLJ20535; CILD45;11q23.2Primary ciliary dyskinesia; OMIM:618801ARSyndromic infertilityAsthenoteratozoospermia: IDA and ODA defects5.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/TTC12-PCD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TTC21ASPGF37, IFT139A, STI23p22.2Multiple morphological abnormalities of the sperm flagella; OMIM:611430ARIsolated infertilityAsthenoteratozoospermia6.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/TTC21A-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TTC29NYD-SP14; SPGF42; TBPP2A;4q31.22Multiple morphological abnormalities of the sperm flagella; OMIM:618745ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella14.5Stronghttp://www.imigc.org/wp-content/uploads/2021/08/TTC29-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
TTLL514q24.3Cone-rod degeneration with spermatogenic failure; OMIM:615860ARSyndromic infertilityAsthenozoospermia, azoospermia7Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
TYRO315q15.1Hypogonadotropic hypogonadismARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
UBE2B5q31.1Oligozoospermia; OMIM:NA (PS258150)ARIsolated infertilityOligozoospermia5Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
UBR26p21.1Non-obstructive azoospermia; OMIM:NA (PS258150)ADIsolated infertilityAzoospermia8Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
UHRF1Np95; hNP95; ICBP90; RNF106; TDRD22; hUHRF1; huNp9519p13.3Oligozoospermia, OMIM gene 607990UndeterminedIsolated infertilityOligozoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/UHRF-OZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
USP11p31.3Non-obstructive azoospermiaADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
USP26NAXq26.2Azoospermia or oligozoospermia; OMIM:NA (PS258150)XLIsolated infertilityAzoospermia, oligozoospermia9.5Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/USP26-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
USP9YYq11.221AzoospermiaYLN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
UTP14C13q14.3Azoospermia and oligozoospermiaARN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
VAMP7Xq28 and Yq1246,XY Differences of Sex Development (Prader scale 4; 5 or 6); OMIM:NA (PS400044)ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia6Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
WBP2NLPAWP22q13.2Fertilization failure; OMIM:NA (PS258150)ARIsolated infertilityNormozoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/WBP2NL-FF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
WDR11N/A10q26.12Hypogonadotropic hypogonadism; OMIM:614858ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia12Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/WDR11-HH-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
WDR11N/A10q26.12Kallmann syndrome; OMIM:614858ADReproductive system syndrome/endocrine disorderNormozoospermia, oligozoospermia, azoospermia11Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/WDR11-KS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
WDR19IFT144; KIAA1638; NPHP13; FAP66; ORF26; FLJ23127; PWDMP; SRTD5; ATD5; CED4;4p14Multiple morphological abnormalities of the sperm flagella; OMIM:NA (PS258150)ARIsolated infertilityAsthenoteratozoospermia: Multiple morphological abnormalities of the sperm flagella3.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/WDR19-MMAF-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
WNK3PRKWNK3, KIAA1566Xp11.22AzoospermiaXLIsolated infertilityAzoospermia3Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/WNK3-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
WNT4NA1p36.1246,XX Differences of Sex DevelopmentADReproductive system syndrome/endocrine disorderAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/WNT4-46XXDSD-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
WT1NPHS4; WIT-2; AWT1; WAGR; WT33; GUD;11p1346,XY Differences of Sex Development (Prader scale 4; 5 or 6) without Wilm's tumor; OMIM:NA (PS400044)ADReproductive system syndrome/endocrine disorderAzoospermia14.25Stronghttp://www.imigc.org/wp-content/uploads/2021/08/WT1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
WTAP6q25.3HypospadiasADN/AN/AN/ANo evidencehttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
XRCC1RCC; SCAR2619q13.31Non-obstructive azoospermia, OMIM gene 194360UndeterminedIsolated infertilityAzoospermiaN/AUnable to classifyhttp://www.imigc.org/wp-content/uploads/2021/08/XRCC1-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
XRCC2FANCU, RAD51-Like7q36.1Non-obstructive azoospermia; OMIM: 617247ARIsolated infertilityAzoospermia10Moderatehttp://www.imigc.org/wp-content/uploads/2021/08/XRCC2-NOA-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
YBX217p13.1Azoospermia and oligozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ZFPM2ZNF89B; HFOG-2; FOG2; SRXY9; DIH3;8q2346,XY Sex reversalADReproductive system syndrome/endocrine disorderAzoospermia≤2No evidencehttp://www.imigc.org/wp-content/uploads/2021/08/ZFPM2-SR-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ZFXXp22.11Oligozoospermia; OMIM:NA (PS258150)XLIsolated infertilityOligozoospermia4.75Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/ZFX-NOA-Combined.xlsx||Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021
ZMYND1517p13.2Non-obstructive azoospermia; OMIM: 615842ARIsolated infertilityAzoospermia4Limitedhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ZNF21411p15.4Azoospermia and severe oligozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ZNF21511p15.4Azoospermia and severe oligozoospermiaUndeterminedN/AN/AN/AUnable to classifyhttp://www.imigc.org/data-sharing/ || N/Ahttps://doi.org/10.1093/humrep/dez022||Oud et al. 2019 Human Reproduction
ZPBPZPBP1, SP387p12.2Globozoospermia, OMIM:NA (PS258150)ARIsolated infertilityTeratozoospermia: globozoospermia6.5Limitedhttp://www.imigc.org/wp-content/uploads/2021/08/ZPBP-GZS-Combined.xlsx || Downloadhttps://doi.org/10.1101/2021.05.01.21256465 || Houston et al. 2021

HPO DECISION TREE – WYRWOLL et AL 2023

Overview of the Human Phenotype Ontology (HPO) terms in the context of non-syndromic male infertility. The starting point for our work is the term “Decreased male fertility” with all further terms stemming from this term. Overall, 34 phenotypes can be diagnosed through semen analysis, 11 through testicular biopsy, and the 2 terms “Gonadal dysgenesis” and “Hypogonadotropic hypogonadism” can be suspected based on the patient’s history and confirmed by clinical work-up. These terms describe syndromic conditions, and, therefore, were not followed up further. CBAVD, congenital bilateral absence of the vas deferens; MMAF, multiple morphological abnormalities of the sperm flagella; SCO, Sertoli cell-only phenotype.
*These terms were not followed up further in our analysis.

HPO TERMS and ASSOCIATED SEMEN AND TESTICULAR PHENOTYPES – WYRWOLL et AL 2023

Overview of selected examples of Human Phenotype Ontology (HPO) terms and the corresponding schematic phenotypes. Additional HPO terms, for example, branching from “Abnormal sperm morphology”, are not depicted here. Abnormal sperm morphology can be a cause of abnormal sperm motility.
MMAF: multiple morphological abnormalities of the sperm flagella; SCO: Sertoli cell-only phenotype.