Supplementary Table S5: Genes without potentially pathogenic variants described
OUD, Manon S., et al. A systematic review and standardized clinical validity assessment of male infertility genes. Human Reproduction, 2019, 34. Jg., Nr. 5, S. 932-941.
Publication: https://doi.org/10.1093/humrep/dez022
Description
Disclaimer
The publication A systematic review and standardized clinical validity assessment of male infertility genes by Manon S. Oud, Ludmila Volozonoka, Roos M. Smits, Lisenka E. L. M. Vissers, Liliana Ramos, Joris A. Veltman is published under an open access license: http://creativecommons.org/licenses/by/4.0/. Granted rights: Share - copy and redistribute the material in any medium or format and Adapt - remix, transform, and build upon the material for any purpose, even commercially.
Curation by the MFGA team
Pie chart of selected column
Table
| CHR | GENE | Synonyms | References(pmid) | Disorder | ReportedInheritance | InheritancePatternInHuman | Conclusion |
|---|---|---|---|---|---|---|---|
| 22q13.33 | ACR | 12801583 | Unexplained male infertility | Not reported | AR | No evidence | |
| 1q24.2 | ADCY10 | 21255775 | Asthenozoospermia | Not reported | AR | No evidence | |
| 2q36.3 | AGFG1 | HRB | 16400072 | Globozoospermia | AR/AD | AR | No evidence |
| 12p13.32 | AKAP3 | 15980003; 11229805; 16009167; 25652624; 25877373 | Multiple morphological abnormalities of the sperm flagella | AR | AR | No evidence | |
| 7q33 | AKR1D1 | 18661284 | Hypospadias | Not reported | AR | No evidence | |
| 19q13.2 | AXL | 24476074; 30098700 | Kallmann syndrome; Anosmia in combination with Hypogonadotropic Hypogonadism. Additional features may include cryptorchidism; unilateral absence of vas deferens; and/or micropenis | AD | AD | No evidence | |
| 14q11.2 | BCL2L2 | 19369647 | Non-obstructive azoospermia | Not reported | AR | No evidence | |
| 2q33.1 | BOLL | BOULE | 15379971; 15705409 | Azoospermia and oligozoospermia | Not reported | AR | No evidence |
| Yq11.223 | BPY2 | 27203195 | Azoospermia and oligozoospermia | YL | YL | No evidence | |
| 1p22.1 | BRDT | 25739334 | Non-obstructive azoospermia | Not reported | AR | No evidence | |
| 2q32.1 | CALCRL | 15636430 | Cryptorchidism | Not reported | AR | No evidence | |
| 12p12.3 | CAPZA3 | 17644991 | Male infertility | Not reported | AR | No evidence | |
| 15q15.3 | CATSPER2 | 21255775; 24690399 | Asthenozoospermia without deafness | AR | AR | No evidence | |
| 5q31.1 | CATSPER3 | 21255775 | Asthenozoospermia | AR | AR | No evidence | |
| 1p36.11 | CATSPER4 | 21255775 | Asthenozoospermia | AR | AR | No evidence | |
| 17q25.3 | CBX2 | 23219007; 30496128 | 46;XX Disorder of sex development | AR | AR | No evidence | |
| 3q26.33 | CCDC39 | 25877373 | Asthenozoospermia | AR | AR | No evidence | |
| 17q25.3 | CCDC40 | 25877373 | Asthenozoospermia | AR | AR | No evidence | |
| 4p15.2 | CCKAR | 30098700 | Hypogonadotropic hypogonadism | Not reported | AR | No evidence | |
| 1q32.2 | CD46 | 11150852 | Idiopathic male infertility | Not reported | AR | No evidence | |
| 12q13.2 | CDK2 | 18941885;29373224 | Non-obstructive azoospermia | AD | AD | No evidence | |
| 7q31.2 | CFTR | 7691870 | Low fertilization and pregnancy rate | AR | AR | No evidence | |
| 10p11.21 | CREM | 11044457; 16143638 | Azoospermia | AD | AD | No evidence | |
| 6p12.3 | CRISP2 | TPX1 | 18550510 | Asthenozoospermia and teratozoospermia | AR | AR | No evidence |
| 12q13.3 | CS | 17298551 | Azoospermia and oligozoospermia | Not reported | AD | No evidence | |
| 20q13.31 | CTCFL | 23955684 | OAT | Not reported | AR | No evidence | |
| Xq24 | CUL4B | 28816568 | Sertoli cell only syndrome | XL | XL | No evidence | |
| 3p24.3 | DAZL | DAZLA | 11499325; 12414900; 16328470; 16573709; 16884537; 27203195 | Azoospermia and oligozoospermia | AR | AR | No evidence |
| 2q31.1 | DCAF17 | 30098700 | Hypogonadotropic hypogonadism | Not reported | AR | No evidence | |
| 11q24.2 | DDX25 | GRTH | 16293649; 17848414; 18487219 | Azoospermia and oligozoospermia | AD | AR | No evidence |
| Xp22.11 | DDX53 | CAGE | 14531651 | Non-obstructive azoospermia | XL | XL | No evidence |
| 20p13 | DEFB126 | 21775668; 25721098 | Male infertility | AR | AR | No evidence | |
| 12q13.12 | DHH | 27711951 | 46;XY Disorder of sex development (prader 4; 5 or 6) | AR | AR | No evidence | |
| 7p15.3 | DNAH11 | 18492703 | Asthenozoospermia | AR | AR | No evidence | |
| 5p15.2 | DNAH5 | 18492703; 25877373 | Asthenozoospermia | AR | AR | No evidence | |
| 2p11.2 | DNAH6 | 28206990 | Azoospermia | AR | AR | No evidence | |
| 9p13.3 | DNAI1 | 18492703; 25877373 | Asthenozoospermia | AR | AR | No evidence | |
| 21q22.3 | DNMT3L | 21126912; 23916795 | Azoospermia and oligozoospermia | AR | AR | No evidence | |
| 7q36.2 | DPP6 | 24937803 | Azoospermia | AD | AD | No evidence | |
| 12q21.33 | DUSP6 | 23643382; 25636053 | Kallmann syndrome; Hypogonadotropic hypogonadism | AD | AD | No evidence | |
| Xp11.4 | DYNLT3 | TCTE1L | 14531651 | Azoospermia | XL | XL | No evidence |
| 5q21.3 | EFNA5 | 30098700 | Hypogonadotropic hypogonadism | AD | AD | No evidence | |
| 2p13.2 | EGR4 | 28464846 | Oligozoospermia and azoospermia | AD | AR | No evidence | |
| 10q26.11 | EMX2 | 10560999 | Kallmann syndrome; hypogonadotropic hypogonadism | Not reported | AD | No evidence | |
| 8q21.13 | FABP9 | 24520497 | Teratozoospermia | Not reported | AR | No evidence | |
| 10q24.32 | FGF8 | 17264867 | Hypospadias | AD | AD | No evidence | |
| 8p11.23 | FGFR1 | KAL2 | 20591981 | Late-onset Hypogonadotropic Hypogonadism | AD | AD | No evidence |
| 8p11.23 | FGFR1 | KAL2 | 21664240 | Isolated cryptorchidism | AD | AD | No evidence |
| 10q26.13 | FGFR2 | 17264867 | Isolated hypospadias | AD | AD | No evidence | |
| 6q16.1 | FHL5 | 16687568 | Azoospermia and oligozoospermia | Not reported | AR | No evidence | |
| 7q11.23 | FKBP6 | 16227348; 16983454; 17307919 | Azoospermia | Not reported | AR | No evidence | |
| 6p21.32 | FKBPL | 20210997 | Azoospermia | Not reported | AD | No evidence | |
| 3q22.3 | FOXL2 | 17103436 | Oligozoospermia in combination with Blepharophimosis; corneal vascularization; deafness; and acroosteolysis | AD | AD | No evidence | |
| Xp21.2 | FTHL17 | 14531651 | Azoospermia | XL | XL | No evidence | |
| 16q12.2 | FTO | 26820768 | Oligozoospermia | AD | AR | No evidence | |
| 16p11.2 | FUS | 19369647 | Non-obstructive azoospermia | Not reported | AD | No evidence | |
| 19q13.12 | GAPDHS | 21255775; 27135296 | Multiple morphological abnormalities of the sperm flagella | Not reported | AR | No evidence | |
| 19q13.2 | GGN | 21114676 | Oligozoospermia | Not reported | AR | No evidence | |
| 13q12.11 | GJB2 | 17103436 | Oligozoospermia in combination with Blepharophimosis; corneal vascularization; deafness; and acroosteolysis | Not reported | AD | No evidence | |
| 7p14.1 | GLI3 | 27502037 | Kallmann syndrome | Not reported | AD | No evidence | |
| 6q22.1 | GOPC | 16400072 | Globozoospermia | AR | AR | No evidence | |
| 12q13.11 | H1FNT | 16474012; 16533358; 17644991 | Azoospermia and oligozoospermia | Not reported | AR | No evidence | |
| 6p22.2 | HFE | 18846434 | Hypogonadism due to iron excess | Not reported | AR | No evidence | |
| 1p32.1 | HOOK1 | 29330334 | Acephalic sperm | AD | AR | No evidence | |
| 1q21.3 | HORMAD1 | 22407170 | Meiotic arrest | Not reported | AR | No evidence | |
| 7p15.2 | HOXA13 | 14675924; 17216618; 30496128 | Cryptorchidism | Not reported | AD | No evidence | |
| 17q21.32 | HOXB13 | 17216618 | Cryptorchidism | Not reported | AR | No evidence | |
| 11p15.5 | HRAS | 29752777 | Cryptorchidism | AD | AD | No evidence | |
| 9p24.1 | INSL6 | 21616179; 25877373; 10759163 | Asthenozoospermia/cryptorchidism | AD | AR | No evidence | |
| 19q13.33 | IZUMO1 | 18082733 | Fertilization failure | AR | AR | No evidence | |
| 13q12.3 | KATNAL1 | 24913027 | Non-obstructive azoospermia | AR | AR | No evidence | |
| 16q21 | KATNB1 | 25280067 | Oligoasthenozoospermia | Not reported | AR | No evidence | |
| 1q32.1 | KISS1 | GPR54 | 20237166 | Central Precocious Puberty | AR | AR | No evidence |
| 1q32.1 | KISS1 | GPR54 | 15598687; 17179725; 20237166; 22724017; 25064402; 25636053; 25739677; 25783047; 26031747; 26199944; 27544332 | Kallmann syndrome; with or without anosmia | AR | AR | No evidence |
| 4q12 | KIT | 12322893 | Azoospermia | Not reported | AD | No evidence | |
| 4p14 | KLB | 28754744 | Hypogonadotropic hypogonadism | AD | AR | No evidence | |
| 19q13.41 | KLK14 | 27827323 | Male infertility | Not reported | AR | No evidence | |
| 19q13.41 | KLK4 | 27827323 | Male infertility | Not reported | AR | No evidence | |
| 19q13 | KLK8 | 27827323 | Male infertility | Not reported | AR | No evidence | |
| 12p12.1 | KRAS | 29752777 | Cryptorchidism | AD | AD | No evidence | |
| 7q32.1 | LEP | 25064402; 26031747; 28209183 | Hypogonadotropic hypogonadism | Not reported | AR | No evidence | |
| 9q34.3 | LHX3 | 25064402 | Hypogonadotropic hypogonadism | Not reported | AR | No evidence | |
| 1q25.2 | LHX4 | 25064402 | Hypogonadotropic hypogonadism | Not reported | AD | No evidence | |
| 1q31.3 | LHX9 | 11397841 | 46;XY Disorders of Sex Development | Not reported | AD | No evidence | |
| 22q12.2 | LIMK2 | 19369647 | Testicular failure | Not reported | AR | No evidence | |
| 19q13.2 | LIPE | 19369647 | Testicular failure | Not reported | AR | No evidence | |
| 15q22.31 | MAP2K1 | 29752777 | Cryptorchidism | AD | AD | No evidence | |
| 10p13 | MEIG1 | 22673690 | Azoospermia and oligozoospermia | Not reported | AR | No evidence | |
| 7q31 | MET | 30098700 | Hypogonadotropic Hypogonadism | AD | AD | No evidence | |
| 1p31.1 | MSH4 | 21126912 | Maturation arrest | AR | AR | No evidence | |
| 11p15.4 | NLRP14 | NALP14 | 16931801 | Azoospermia and severe oligozoospermia | AD | AR | No evidence |
| 2q11.2 | NPAS2 | 25956372 | Non-obstructive azoospermia | AR | AR | No evidence | |
| 10q22.1 | NPFFR1 | GPR147 | 25180599 | Gonadotrophin-releasing hormone-dependent pubertal disorders | Not reported | AR | No evidence |
| 7p15.3 | NPVF | RFRP3 | 25180599 | Gonadotrophin-releasing hormone-dependent pubertal disorders | Not reported | AR | No evidence |
| Xp21.2 | NR0B1 | DAX1 | 14689056; 16556678; 18056774; 21340153; 24140641; 25529318; 26260363 | 46;XX Disorders of Sex Development | XL | XL | No evidence |
| Xq22.1 | NXF2 | 14531651; 18258234 | Non-obstructive azoospermia | XL | XL | No evidence | |
| 1q21.3 | OAZ3 | 16542438 | Azoospermia | Not reported | AR | No evidence | |
| 14q22.3 | OTX2 | 25064402 | Hypogonadotropic hypogonadism | Not reported | AD | No evidence | |
| 6q26 | PACRG | 19268936 | Male infertility | Not reported | AR | No evidence | |
| 5q15 | PCSK1 | 26031747 | Kallmann syndrome | Not reported | AR | No evidence | |
| 12p12.2 | PDE3A | 27502037 | Kallmann syndrome | AD | AD | No evidence | |
| 22q13.1 | PICK1 | 20562896; 24265589 | Globozoospermia | AR | AR | No evidence | |
| 22q13.1 | PLA2G6 | 21255775 | Asthenozoospermia | AD | AR | No evidence | |
| 15q26.1 | POLG | 11687794; 16487403 | Male infertility | Not reported | AR | No evidence | |
| 7q11.23 | POR | 30496128; 30496128 | Testicular regression syndrome | AR | AR | No evidence | |
| 6q16.1 | POU3F2 | 15846219 | Hypogonadotropic hypogonadism | Not reported | AD | No evidence | |
| 12q24.11 | PPP1CC | 19369647 | Testicular failure | Not reported | AD | No evidence | |
| 5p14.2 | PRDM9 | 18941885; 19168450; 28718531 | Non-obstructive azoospermia | Not reported | AR | No evidence | |
| 16p13.13 | PRM3 | 19602509 | Oligozoospermia or azoospermia | Not reported | AR | No evidence | |
| 12q24.13 | PTPN11 | 29752777 | Cryptorchidism | AD | AD | No evidence | |
| 2p24.1 | PUM2 | 17154300 | Spermatogenic failure | AD | AD | No evidence | |
| 1q21.3 | PYGO2 | 26345837 | Oligozoospermia or azoospermia | AD | AD | No evidence | |
| 3p25.2 | RAF1 | 29752777 | Cryptorchidism | AD | AD | No evidence | |
| Xq26.3 | RBMX | 16491274 | Non-obstructive azoospermia | XL | XL | No evidence | |
| 1q32.3 | RD3 | 27502037 | Hypogonadotropic hypogonadism and Kallmann syndrome | AD | AR | No evidence | |
| Xq24 | RHOXF1 | 28171660 | Severe oligozoospermia | XL | XL | No evidence | |
| 18q11.1 | ROCK1 | 25529318; 26260363 | 46;XX Disorders of Sex Development | Not reported | AD | No evidence | |
| 13q13.1 | RXFP2 | LGR8/GREAT | 12217959; 12970298; 14656401; 15353080; 15533513; 15579790; 17028442; 19017913; 19416190; 20636340; 21853106 | Cryptorchidism | AD | AR | No evidence |
| 5p15.33 | SDHA | 17298551 | Azoospermia and oligozoospermia | Not reported | AR | No evidence | |
| 1p36.13 | SDHB | 17298551 | Azoospermia and oligozoospermia | Not reported | AR | No evidence | |
| 1q23.3 | SDHC | 17298551 | Azoospermia and oligozoospermia | Not reported | AR | No evidence | |
| 11q23.1 | SDHD | 17298551 | Azoospermia and oligozoospermia | Not reported | AR | No evidence | |
| 20q13.12 | SEMG1 | 12632094; 27827323 | Asthenozoospermia | Not reported | AR | No evidence | |
| 20q13.12 | SEMG2 | 12632094; 27827323 | Asthenozoospermia | Not reported | AR | No evidence | |
| 14q32.13 | SERPINA5 | PCI/PAI3 | 15377716 | Azoospermia and teratozoospermia | Not reported | AR | No evidence |
| 15q24.2 | SIN3A | 25395209 | Azoospermia | Not reported | AD | No evidence | |
| 6p21.31 | SLC26A8 | 15579655; 23582645 | Asthenozoospermia | AD | AR | No evidence | |
| 4p15.2 | SLC34A2 | 16960801 | Testicular Microlithiasis | AR | AR | No evidence | |
| 3q13.2 | SLC9C1 | 21255775 | Asthenozoospermia | Not reported | AR | No evidence | |
| 9q34.3 | SOHLH1 | 20506135; 28718531 | Non-obstructive azoospermia | AD | AR | No evidence | |
| 6q15 | SPACA1 | 25755131 | Globozoospermia | Not reported | AR | No evidence | |
| 17q11.2 | SPACA3 | 24872021 | Infertility | Not reported | AR | No evidence | |
| 2q34 | SPAG16 | 17699735; 22963137 | Asthenozoospermia | AD | AR | No evidence | |
| 1q41 | SPATA17 | 28718531; 19483714 | Non-obstructive azoospermia | AD | AR | No evidence | |
| 16q24.3 | SPATA33 | 30098056 | Non-obstructive azoospermia | Not reported | AR | No evidence | |
| 13q31.1 | SPRY2 | 23380608; 23643382; 26260363 | 46;XX Disorders of sex development | AD | AD | No evidence | |
| 7q33 | STRA8 | 28718531 | Non-obstructive azoospermia | AD | AR | No evidence | |
| 14q22.1 | STYX | 19369647 | Testicular failure | Not reported | AD | No evidence | |
| Xq22.1 | TAF7L | TAF2Q | 14531651; 16597641; 17714218 | Azoospermia | XL | XL | No evidence |
| 6q23.2 | TBPL1 | 19369647 | Testicular failure | AD | AD | No evidence | |
| 1p34.3 | TEKT2 | 18227105; 26584823 | Asthenozoospermia | Not reported | AR | No evidence | |
| Xq22.3 | TEX13A | 14531651 | Azoospermia | XL | XL | No evidence | |
| Xq22.3 | TEX13B | 14531651 | Azoospermia | XL | XL | No evidence | |
| 2q35 | TNP1 | 16291974; 17644991; 21425891; 24976820; 16989827 | Oligozoospermia or varicocele | Not reported | AR | No evidence | |
| 16p13.13 | TNP2 | 10464636; 16291974; 16989827; 17644991; 19602509; 21425891 | Oligozoospermia | Not reported | AR | No evidence | |
| 3q28 | TP63 | 12401986 | Syndromic teratozoospermia | AD | AD | No evidence | |
| 8q24.3 | TRAPPC9 | 27502037 | Hypogonadotropic hypogonadism and Kallmann syndrome | AD | AR | No evidence | |
| Xq22.3 | TSC22D3 | GILZ | 23494955 | Sertoli cell only syndrome | XL | XL | No evidence |
| 15q15.1 | TYRO3 | 30098700 | Hypogonadotropic hypogonadism | Not reported | AR | No evidence | |
| 1p31.3 | USP1 | 25739334 | Non-obstructive azoospermia | Not reported | AD | No evidence | |
| 13q14.3 | UTP14C | 16354793 | Azoospermia and oligozoospermia | AD | AR | No evidence | |
| Xp11.22 | WNK3 | 29790874 | Azoospermia | XL | XL | No evidence | |
| 1p36.12 | WNT4 | 14689056; 21340153 | 46;XX Disorders of sex development | Not reported | AD | No evidence | |
| 6q25.3 | WTAP | 14675924 | Hypospadias | Not reported | AD | No evidence |