Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS2 gene AARS2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, progressive, with ovarian failure, MIM# 615889 24808023;32775515;31280959;29749055 False 3 100;0;0 1.156 True ENSG00000124608 ENSG00000124608 HGNC:21022 ACTL7A gene ACTL7A Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 86, #MIM 620499 32923619;34727571;36593593;37004249;37991128;36574082;35921706 False 3 100;0;0 1.156 True ENSG00000187003 ENSG00000187003 HGNC:161 ACTL9 gene ACTL9 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 53, MIM# 619258 33626338;38963606 False 3 100;0;0 1.156 True ENSG00000181786 ENSG00000181786 HGNC:28494 ADGB gene ADGB Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, ADGB-related 38385883;36995441 False 3 100;0;0 1.156 True ENSG00000118492 ENSG00000118492 HGNC:21212 ADGRG2 gene ADGRG2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss Other congenital bilateral absence of vas deferens MONDO:0018801 15367682;27476656 False 3 100;0;0 1.156 False ENSG00000173698 ENSG00000173698 HGNC:4516 AIRE gene AIRE Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, MIM# 240300 39318439;38808199;30150985 False 3 100;0;0 1.156 True ENSG00000160224 ENSG00000160224 HGNC:360 AK9 gene AK9 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 37713809 False 3 100;0;0 1.156 False ENSG00000155085 ENSG00000155085 HGNC:33814 AMH gene AMH Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Persistent Mullerian duct syndrome, type I, MIM# 261550 2023927;1483695;11760020;39889328;35052499 False 3 100;0;0 1.156 True ENSG00000104899 ENSG00000104899 HGNC:464 AMHR2 gene AMHR2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Persistent Mullerian duct syndrome, type I, MIM #261550 7493017;8872466;19457927;35052499;33025551;34480531 False 3 100;0;0 1.156 True ENSG00000135409 ENSG00000135409 HGNC:465 ANKRD31 gene ANKRD31 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure, MONDO:0019852, ANKRD31-related 34794894;34257419;31003867 False 3 100;0;0 1.156 True ENSG00000145700 ENSG00000145700 HGNC:26853 ANOS1 gene ANOS1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 40508017;40262549;40258767;40101754;16882753 False 3 100;0;0 1.156 True ENSG00000011201 ENSG00000011201 HGNC:6211 ARMC12 gene ARMC12 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 35534203;33536340 False 3 100;0;0 1.156 False ENSG00000157343 ENSG00000157343 HGNC:21099 ARMC2 gene ARMC2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal "Spermatogenic failure 38, MIM# 618433" 40158138;38492154;35543806;30686508 False 3 100;0;0 1.156 True ENSG00000118690 ENSG00000118690 HGNC:23045 ASB9 gene ASB9 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Infertility disorder, MONDO:0005047, ASB9-related 41730923 False 3 100;0;0 1.156 True ENSG00000102048 ENSG00000102048 HGNC:17184 ASTL gene ASTL Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 11, MIM# 619643 34704130;37640117;37133443 False 3 100;0;0 1.156 True ENSG00000188886 ENSG00000188886 HGNC:31704 AURKC gene AURKC Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 5, MIM #243060 17435757;19147683;21733974 False 3 100;0;0 1.156 True ENSG00000105146 ENSG00000105146 HGNC:11391 AXDND1 gene AXDND1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, AXDND1-related 40457935 False 3 100;0;0 1.156 True ENSG00000162779 ENSG00000162779 HGNC:26564 BCORL1 gene BCORL1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure, MONDO:0004983, BCORL1-related 38342987;32376790;39267058;39189935 False 3 100;0;0 1.156 True ENSG00000085185 ENSG00000085185 HGNC:25657 BLM gene BLM Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, MIM# 210900 34794894;29056561;28846287 False 3 100;0;0 1.156 True ENSG00000197299 ENSG00000197299 HGNC:1058 BMP15 gene BMP15 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss Other Ovarian dysgenesis 2, MIM# 300510;Premature ovarian failure 4, MIM# 300510 15136966;16508750;16464940;19263482;39850788;35861920 False 3 100;0;0 1.156 True ENSG00000130385 ENSG00000130385 HGNC:1068 BNC1 gene BNC1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Premature ovarian failure 16, MIM# 618723 32962729;30010909 False 3 100;0;0 1.156 True ENSG00000169594 ENSG00000169594 HGNC:1081 BTG4 gene BTG4 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 8, MIM# 619009 32502391;34647228 False 3 100;0;0 1.156 True ENSG00000137707 ENSG00000137707 HGNC:13862 C12orf40 gene C12orf40 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, C12orf40-related 41580510;37612290;37604834 False 3 100;0;0 1.156 False ENSG00000180116 ENSG00000180116 HGNC:26846 C14orf39 gene C14orf39 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 18, MIM# 619203;Spermatogenic failure 52, MIM# 619202 33508233;34718620;27796301 False 3 100;0;0 1.156 True ENSG00000179008 ENSG00000179008 HGNC:19849 C17orf53 gene C17orf53 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 11, MIM# 620897 34707299;38105698;36099812;31467087 False 3 100;0;0 1.156 True ENSG00000125319 ENSG00000125319 HGNC:28460 CATSPER1 gene CATSPER1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 7, MIM# 612997 19344877;11595941 False 3 100;0;0 1.156 True ENSG00000175294 ENSG00000175294 HGNC:17116 CCDC146 gene CCDC146 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 38441556;39245651 False 3 100;0;0 1.156 False ENSG00000135205 ENSG00000135205 HGNC:29296 CCDC155 gene CCDC155 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 22, MIM# 620548;Spermatogenic failure 88, MIM# 620547 29790874;35674372;36864840;35708642;39545410 False 3 100;0;0 1.156 True ENSG00000161609 ENSG00000161609 HGNC:26520 CCDC188 gene CCDC188 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Male infertility due to acephalic spermatozoa, MONDO:0035153 41004021 False 3 100;0;0 1.156 True ENSG00000234409 ENSG00000234409 HGNC:51899 CCNB3 gene CCNB3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CCNB3-related 35722368;32938693;34021051;30770433;34850816 False 3 100;0;0 1.156 True ENSG00000147082 ENSG00000147082 HGNC:18709 CDC20 gene CDC20 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 14, MIM# 620276 32666501;33683667;33898437;34218387 False 3 100;0;0 1.156 True ENSG00000117399 ENSG00000117399 HGNC:1723 CDC25A gene CDC25A Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spermatogenic failure, MONDO:0004983, CDC25A-related 40342881;30009144;16720623 False 3 100;0;0 1.156 True ENSG00000164045 ENSG00000164045 HGNC:1725 CEP112 gene CEP112 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 44, MIM#619044;Acephalic spermatozoa;infertility 39349455;31654588 False 3 50;50;0 1.156 False ENSG00000154240 ENSG00000154240 HGNC:28514 CFAP221 gene CFAP221 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 55, MIM# 279000 31636325;39362668;40250778;38960684;40272718 False 3 100;0;0 1.156 True ENSG00000163075 ENSG00000163075 HGNC:33720 CFAP43 gene CFAP43 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 19 MONDO:0054723 31884020;31004071;29449551;28552195;29277146;29449551;34089056;34100391;34529793;36960497;38745955;40376536;41341611 False 3 100;0;0 1.156 True ENSG00000197748 ENSG00000197748 HGNC:26684 CFAP44 gene CFAP44 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 28552195;29277146;29449551 False 3 100;0;0 1.156 False ENSG00000206530 ENSG00000206530 HGNC:25631 CFAP47 gene CFAP47 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Spermatogenic failure, X-linked, 3, MIM# 301059 33472045;39698362 False 3 50;50;0 1.156 True ENSG00000165164 ENSG00000165164 HGNC:26708 CFAP61 gene CFAP61 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 36659204;34792097;35387802;35174165 False 3 100;0;0 1.156 False ENSG00000089101 ENSG00000089101 HGNC:15872 CFTR gene CFTR Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Congenital bilateral absence of vas deferens, MIM# 277180 30214069;40169970;39592508;39356031 False 3 100;0;0 1.156 True ENSG00000001626 ENSG00000001626 HGNC:1884 CHEK1 gene CHEK1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oocyte/zygote/embryo maturation arrest 21, MIM# 620610 33953335;33948904 False 3 100;0;0 1.156 True ENSG00000149554 ENSG00000149554 HGNC:1925 CLPB gene CLPB Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271;Primary ovarian insufficiency 36074910 False 3 100;0;0 1.156 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 27087618;23541340;32399598;33538981 False 3 100;0;0 1.156 True ENSG00000125656 ENSG00000125656 HGNC:2084 CNTD2 gene CNTD2 Expert Review Green;Other Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest MONDO:0014769 41005306 False 3 100;0;0 1.156 True ENSG00000105219 ENSG00000105219 HGNC:25805 CYP17A1 gene CYP17A1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 False 3 100;0;0 1.156 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP19A1 gene CYP19A1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Aromatase deficiency, MIM# 613546 32318648 False 3 100;0;0 1.156 True ENSG00000137869 ENSG00000137869 HGNC:2594 DAP3 gene DAP3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 7, MIM# 621101 39701103 False 3 100;0;0 1.156 True ENSG00000132676 ENSG00000132676 HGNC:2673 DCAF17 gene DCAF17 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, MIM# 241080;Hypergonadotropic/ Hypogonadotropic Hypogonadism 33819414;27240811;20507343;34630532;31347785;34590781;29574468 False 3 100;0;0 1.156 True ENSG00000115827 ENSG00000115827 HGNC:25784 DDX3Y gene DDX3Y Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss Other Azoospermia, MONDO:0100459, DDX3Y-related 36997603 False 3 100;0;0 1.156 True ENSG00000067048 ENSG00000067048 HGNC:2699 DHH gene DHH Expert list;Expert Review Green Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766 25927242;28589169;28708305;29471294;40176231 False 3 100;0;0 1.156 True ENSG00000139549 ENSG00000139549 HGNC:2865 DLGAP5 gene DLGAP5 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, DLGAP5-related 40796344 False 3 100;0;0 1.156 True ENSG00000126787 ENSG00000126787 HGNC:16864 DMRT1 gene DMRT1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Azoospermia, MONDO:0100459, DMRT1-related 40442410;39777458;38511217;36572623;35366911;32741963;31745530;31479588;26139570;26005864 False 3 67;33;0 1.156 True ENSG00000137090 ENSG00000137090 HGNC:2934 DNAAF1 gene DNAAF1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 13, #MIM 613193 19944400;19944405;33174003 False 3 100;0;0 1.156 True ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF4 gene DNAAF4 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 25, MIM# 615482 23872636;37674365;37147940;36583018;35903363 False 3 100;0;0 1.156 True ENSG00000256061 ENSG00000256061 HGNC:21493 DNAH1 gene DNAH1 ClinGen;Expert Review Green Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 18, MONDO:0054615 34867808, 31507630, 24360805, 27798045, 11371505, 27798045, 29449551 False 3 100;0;0 1.156 True ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH10 gene DNAH10 Expert list;Expert Review Green Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 56, MIM# 619515 34237282 False 3 100;0;0 1.156 True ENSG00000197653 ENSG00000197653 HGNC:2941 DNAH11 gene DNAH11 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, # MIM 611884 39256880;32172300 False 3 0;0;0 1.156 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH12 gene DNAH12 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal "Spermatogenic failure 100, MIM# 621209" 39071892;40146200 False 3 100;0;0 1.156 True ENSG00000174844 ENSG00000174844 HGNC:2943 DNAH2 gene DNAH2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 45, MIM# 619094 30811583;32732226;40592014 False 3 100;0;0 1.156 True ENSG00000183914 ENSG00000183914 HGNC:2948 DNAH6 gene DNAH6 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, DNAH6-related 37594300;39192248;37424858;31676830;29356036;40592014 False 3 100;0;0 1.156 True ENSG00000115423 ENSG00000115423 HGNC:2951 DNAH8 gene DNAH8 ClinGen;Expert Review Green Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 46, MONDO:0033673 31178125, 32619401, 32681648, 33704367 False 3 100;0;0 1.156 True ENSG00000124721 ENSG00000124721 HGNC:2952 DNAH9 gene DNAH9 Expert Review Green;Victorian Clinical Genetics Services Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 40, MIM# 618300 30471717;30471718;33610189;39523437;38884051 False 3 100;0;0 1.156 True ENSG00000007174 ENSG00000007174 HGNC:2953 DNALI1 gene DNALI1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, DNALI1-related 40298292;38212584;36792588;36726469 False 3 100;0;0 1.156 True ENSG00000163879 ENSG00000163879 HGNC:14353 DNHD1 gene DNHD1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 65, MIM# 619712 34932939 False 3 100;0;0 1.156 True ENSG00000179532 ENSG00000179532 HGNC:26532 DPY19L2 gene DPY19L2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 9, MIM# 613958 15533374;21397064;21397064;26516168;30333325;39045326 False 3 100;0;0 1.156 True ENSG00000177990 ENSG00000177990 HGNC:19414 EIF2B2 gene EIF2B2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, MIM# 603896 12707859;21484434 False 3 100;0;0 1.156 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B4 gene EIF2B4 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ovarioleukodystrophy, MIM# 620314 11835386;12707859;14566705;25600065;26043506 False 3 100;0;0 1.156 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ovarioleukodystrophy, MIM# 620315 PMID:12707859;18005052;33245593. False 3 100;0;0 1.156 True ENSG00000145191 ENSG00000145191 HGNC:3261 EIF4ENIF1 gene EIF4ENIF1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related 23902945;39827467;36030004;38604507;31810472;33095795 False 3 100;0;0 1.156 True ENSG00000184708 ENSG00000184708 HGNC:16687 ELL3 gene ELL3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pregnancy loss, recurrent, susceptibility to, MONDO:0000144, ELL3-related 39820605 False 3 100;0;0 1.156 True ENSG00000128886 ENSG00000128886 HGNC:23113 ERCC6 gene ERCC6 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 11, MIM# 616946 26218421;33109206;33538981;39277148;35975393 False 3 100;0;0 1.156 True ENSG00000225830 ENSG00000225830 HGNC:3438 ESR1 gene ESR1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Estrogen resistance, MIM# 615363 8090165;23841731;27754803 False 3 100;0;0 1.156 True ENSG00000091831 ENSG00000091831 HGNC:3467 EXO1 gene EXO1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian failure, MONDO:0005387, EXO1-related 39595984;32772095;36385415 False 3 100;0;0 1.156 True ENSG00000174371 ENSG00000174371 HGNC:3511 FANCM gene FANCM Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 15, MIM# 618096;Spermatogenic failure 28, MIM# 618086 33036707;29231814;30075111;29895858;38927643 False 3 100;0;0 1.156 True ENSG00000187790 ENSG00000187790 HGNC:23168 FBXO43 gene FBXO43 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 12, MIM# 619697;Spermatogenic failure 64, MIM# 619696 34052850;30878252;34595750 False 3 100;0;0 1.156 True ENSG00000156509 ENSG00000156509 HGNC:28521 FGF8 gene FGF8 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702 20463092;18596921 False 3 100;0;0 1.156 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypogonadotropic hypogonadism 2 with or without anosmia , MIM#147950" 28008864;26708526;17154279;21682876;16764984 False 3 100;0;0 1.156 True ENSG00000077782 ENSG00000077782 HGNC:3688 FIGLA gene FIGLA Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Premature ovarian failure 6, MIM# 612310 18499083;29914564;30474133;34778283 False 3 100;0;0 1.156 True ENSG00000183733 ENSG00000183733 HGNC:24669 FKBP6 gene FKBP6 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 77, MIM# 620103 36150389 False 3 100;0;0 1.156 True ENSG00000077800 ENSG00000077800 HGNC:3722 FOXD1 gene FOXD1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent pregnancy loss and repeated implantation failure susceptibility, MONDO:0000144, FOXD1-related 27805902;31395028 False 3 100;0;0 1.156 True ENSG00000251493 ENSG00000251493 HGNC:3802 FOXL2 gene FOXL2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Premature ovarian failure 3, #MIM 608996 12149404;19429596;38558253;36793102;39545410 False 3 100;0;0 1.156 True ENSG00000183770 ENSG00000183770 HGNC:1092 FOXP3 gene FOXP3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked immunodysregulation, polyendocrinopathy, and enteropathy, MIM# 304790 28833278;25546394;26395338;26387632;26009232 False 3 100;0;0 1.156 True ENSG00000049768 ENSG00000049768 HGNC:6106 FSHB gene FSHB Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 24 without anosmia, MIM# 229070 8220432;8220432;9624193;9806482;12161499 False 3 100;0;0 1.156 True ENSG00000131808 ENSG00000131808 HGNC:3964 FSHR gene FSHR Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ovarian dysgenesis 1, MIM# 233300;Ovarian hyperstimulation syndrome, MIM# 608115 7553856;9769327;11889179;20087398;12930927;12930928;17721928;36704038 False 3 100;0;0 1.156 True ENSG00000170820 ENSG00000170820 HGNC:3969 FSIP2 gene FSIP2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 34, MIM#618153 30137358;40968718;36632462;33631238 False 3 100;0;0 1.156 True ENSG00000188738 ENSG00000188738 HGNC:21675 GALT gene GALT Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MIM# 230400;Premature ovarian failure 39440457;19733849;34433538;31042289;34730073 False 3 100;0;0 1.156 True ENSG00000213930 ENSG00000213930 HGNC:4135 GDF9 gene GDF9 Expert Review Green;Literature;Victorian Clinical Genetics Services Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 14, MIM# 618014 41783724;38942181;38672141;38649916;38643161;35013061;34095689;33797006;33538981;33095795;29044499;27603904 False 3 100;0;0 1.156 True ENSG00000164404 ENSG00000164404 HGNC:4224 GGN gene GGN Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 69, MIM# 619826 False 3 100;0;0 1.156 True ENSG00000179168 ENSG00000179168 HGNC:18869 GGPS1 gene GGPS1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MMIM# 619518" 32399598;32403198 False 3 100;0;0 1.156 True ENSG00000152904 ENSG00000152904 HGNC:4249 GNRH1 gene GNRH1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 19535795;19567835;32134721;31200363;26595427;34923491 False 3 100;0;0 1.156 True ENSG00000147437 ENSG00000147437 HGNC:4419 GNRHR gene GNRHR Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110 28348023;9371856;36385415 False 3 100;0;0 1.156 True ENSG00000109163 ENSG00000109163 HGNC:4421 H6PD gene H6PD Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Cortisone reductase deficiency 1, MIM# 604931 12858176;18628520;18628520;36385415 False 3 100;0;0 1.156 True ENSG00000049239 ENSG00000049239 HGNC:4795 HARS2 gene HARS2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM# 614926 31449985;21464306;34406847 False 3 100;0;0 1.156 True ENSG00000112855 ENSG00000112855 HGNC:4817 HFM1 gene HFM1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Premature ovarian failure 9, MIM# 615724 24597873;31279343;35881270;36864181;39929154 False 3 100;0;0 1.156 True ENSG00000162669 ENSG00000162669 HGNC:20193 HIPK4 gene HIPK4 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infertility disorder, MONDO:0005047, HIPK4-related 10.64898/2026.03.04.26346694;35931115 False 3 100;0;0 1.156 True ENSG00000160396 ENSG00000160396 HGNC:19007 HSD17B4 gene HSD17B4 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 1, #MIM 233400 20673864;28830375 False 3 100;0;0 1.156 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSF2BP gene HSF2BP Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 19, OMIM#619245 32845237;35174157 False 3 100;0;0 1.156 True ENSG00000160207 ENSG00000160207 HGNC:5226 IKBKG gene IKBKG Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Incontinentia pigmenti, MIM# 308300 False 3 100;0;0 1.156 True ENSG00000073009 ENSG00000269335 HGNC:5961 INSL3 gene INSL3 Expert Review Green;Victorian Clinical Genetics Services Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cryptorchidism, MIM# 219050;Infertility disorder MONDO:0005047, INSL3-related 12601553;12970298;11095425;41369823;37208861;33095795 False 3 100;0;0 1.156 True ENSG00000248099 ENSG00000248099 HGNC:6086 KCNU1 gene KCNU1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 79, #MIM 620196 34980136;35551387;20138882;21427226;25271166;35551387 False 3 100;0;0 1.156 True ENSG00000215262 ENSG00000215262 HGNC:18867 KCTD19 gene KCTD19 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, KCTD19-related 37192818;37485353;39318590;40410542;41221840 False 3 100;0;0 1.156 True ENSG00000168676 ENSG00000168676 HGNC:24753 KHDC3L gene KHDC3L Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Recurrent hydatidiform mole 2, MIM# 614293 21885028;19246479;23232697;31847873;31609975;29606347 False 3 100;0;0 1.156 True ENSG00000203908 ENSG00000203908 HGNC:33699 KIAA1683 gene KIAA1683 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 78, #MIM 620170 36321563;39872118;37140151;37184908;40437858 False 3 100;0;0 1.156 True ENSG00000130518 ENSG00000130518 HGNC:29350 KISS1R gene KISS1R Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837 23349759;22619348;21193544;17164310;14573733;27094476;33819414 False 3 100;0;0 1.156 True ENSG00000116014 ENSG00000116014 HGNC:4510 LARS2 gene LARS2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, MIM# 615300 23541342;26657938;30737337;32442335 False 3 100;0;0 1.156 True ENSG00000011376 ENSG00000011376 HGNC:17095 LHB gene LHB Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300 1727547;12189497;19126631;17761593;19890128;15569941;39786527;35470463 False 3 100;0;0 1.156 True ENSG00000104826 ENSG00000104826 HGNC:6584 LHCGR gene LHCGR Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Luteinizing hormone resistance, female/ Leydig cell hypoplasia with pseudohermaphroditism/ Leydig cell hypoplasia with hypergonadotropic hypogonadism, MIM# 238320 10714363, 8559204, 21683950;39162678;37462066;32860205;29912377;30016538 False 3 100;0;0 1.156 True ENSG00000138039 ENSG00000138039 HGNC:6585 LHX8 gene LHX8 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited premature ovarian failure, MONDO:0019852, LHX8-related 27603904;34095689;29329412;36029299 False 3 100;0;0 1.156 True ENSG00000162624 ENSG00000162624 HGNC:28838 LMNA gene LMNA Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Laminopathy;Female infertility, premature ovarian insufficiency 18364375;19283854;39595984 False 3 100;0;0 1.156 True ENSG00000160789 ENSG00000160789 HGNC:6636 LRRC23 gene LRRC23 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 92, MIM# 620848 37804054;38091523;39054792 False 3 33;33;33 1.156 True ENSG00000010626 ENSG00000010626 HGNC:19138 MAATS1 gene MAATS1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 32161152 False 3 100;0;0 1.156 False ENSG00000183833 ENSG00000183833 HGNC:24010 MCM8 gene MCM8 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 10, MIM# 612885;Azoospermia, MONDO:0100459 25437880;25873734;40064807;32048466 False 3 100;0;0 1.156 True ENSG00000125885 ENSG00000125885 HGNC:16147 MCM9 gene MCM9 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 4, MIM# 616185 25480036;26771056;31042289 False 3 100;0;0 1.156 True ENSG00000111877 ENSG00000111877 HGNC:21484 MCMDC2 gene MCMDC2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Azoospermia, MONDO:0100459, MCMDC2-related PMID: 40897906;35172124;39789727;36732629 False 3 100;0;0 1.156 True ENSG00000178460 ENSG00000178460 HGNC:26368 MEI1 gene MEI1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Recurrent hydatidiform mole 3, MIM# 618431;Non-obstructive azoospermia 30388401;38416203;34037756;36759719;32741963;36017582 False 3 100;0;0 1.156 True ENSG00000167077 ENSG00000167077 HGNC:28613 MEIOB gene MEIOB Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 23, MIM# 620686;Spermatogenic failure 22, MIM# 617706 28206990;34392356;35991565;37715646;31000419;39545410;30838384 False 3 100;0;0 1.156 True ENSG00000162039 ENSG00000162039 HGNC:28569 MOS gene MOS Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 20, MIM# 620383 34779126;34997960;35670744;36403623 False 3 100;0;0 1.156 True ENSG00000172680 ENSG00000172680 HGNC:7199 MOV10L1 gene MOV10L1 Expert list;Expert Review Green Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 73, MIM#619878 35476666;20534472;39122675 False 3 100;0;0 1.156 True ENSG00000073146 ENSG00000073146 HGNC:7201 MSH4 gene MSH4 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 20, MIM# 619938;Spermatogenic failure 2, MIM# 108420 28541421;33448284;34755185;33437391;33448284;35090489;34755185;38175272;37620942 False 3 100;0;0 1.156 True ENSG00000057468 ENSG00000057468 HGNC:7327 MSH5 gene MSH5 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 13, MIM #617442;Spermatogenic failure 74, MIM# 619937 28175301;18166824;34755185 False 3 100;0;0 1.156 True ENSG00000204410 ENSG00000204410 HGNC:7328 NBN gene NBN Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM# 251260 19105185;29706645;31729086;34794894;20444919 False 3 100;0;0 1.156 True ENSG00000104320 ENSG00000104320 HGNC:7652 NLRP2 gene NLRP2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 18, MIM# 620332 30877238;39585517;39905760 False 3 100;0;0 1.156 True ENSG00000022556 ENSG00000022556 HGNC:22948 NLRP5 gene NLRP5 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 19, MIM# 620333 30877238;32222962;35091966;35946397;33583041;39887367 False 3 100;0;0 1.156 True ENSG00000171487 ENSG00000171487 HGNC:21269 NLRP7 gene NLRP7 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Recurrent hydatidiform mole 1, # MIM 231090 17579354;19650864;25097207;23201303;23722513;32172300;37148315 False 3 100;0;0 1.156 True ENSG00000167634 ENSG00000167634 HGNC:22947 NOBOX gene NOBOX Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Premature ovarian failure 5, MIM# 611548 17701902;21837770;25514101;39871066;34480423;29067606 False 3 100;0;0 1.156 True ENSG00000106410 ENSG00000106410 HGNC:22448 NOTCH2 gene NOTCH2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited primary ovarian failure, MONDO:0019852, NOTCH2-related 32312275;30304577;28505269;28283672 False 3 100;0;0 1.156 True ENSG00000134250 ENSG00000134250 HGNC:7882 NR0B1 gene NR0B1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital adrenal hypoplasia, #MIM 300200 12519885;23384712;26207377 False 3 100;0;0 1.156 True ENSG00000169297 ENSG00000169297 HGNC:7960 NR5A1 gene NR5A1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 7, MIM #612964;Spermatogenic failure 8, # 613957 20887963;19246354;37409232 False 3 100;0;0 1.156 True ENSG00000136931 ENSG00000136931 HGNC:7983 NUP107 gene NUP107 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 6, MIM# 618078 26485283;34707299;29363275 False 3 100;0;0 1.156 True ENSG00000111581 ENSG00000111581 HGNC:29914 PABPC1L gene PABPC1L Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 22, #MIM 621093 37052235;37723834;38177974;32172300 False 3 100;0;0 1.156 True ENSG00000101104 ENSG00000101104 HGNC:15797 PADI6 gene PADI6 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 16, #MIM 617234 29693651;33583041;33221824;27730629;27545678;34987164 False 3 100;0;0 1.156 True ENSG00000256049 ENSG00000276747 HGNC:20449 PANX1 gene PANX1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 7, MIM# 618550 30918116;39232764;35834089;36469255;33495594 False 3 100;0;0 1.156 True ENSG00000110218 ENSG00000110218 HGNC:8599 PATL2 gene PATL2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte maturation defect 4, MIM# 617743 28965844;28965849;35091966;32048119;30765866;39476306;38536595 False 3 100;0;0 1.156 True ENSG00000229474 ENSG00000229474 HGNC:33630 PLCZ1 gene PLCZ1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 17, MIM# 617214 26721930;31463947;36593593;37004249 False 3 100;0;0 1.156 True ENSG00000139151 ENSG00000139151 HGNC:19218 PMM2 gene PMM2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, MIM #212065;Primary ovarian failure 31902100;25497157;33583911 False 3 100;0;0 1.156 True ENSG00000140650 ENSG00000140650 HGNC:9115 PNPLA6 gene PNPLA6 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Boucher-Neuhauser syndrome, MIM# 215470 27866050;24790214;25267340;25033069;24355708;33141049 False 3 100;0;0 1.156 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal POLG-related disorders;Premature ovarian failure 29992832;16595552;22405928;20701905 False 3 100;0;0 1.156 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 23694757;21855841;30414627;34611991 False 3 100;0;0 1.156 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 25339210;27512013;26113998;22036171;22036172;32319736;26113998 False 3 100;0;0 1.156 True ENSG00000013503 ENSG00000013503 HGNC:30348 POR gene POR Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal "Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571" 32725309;32242900 False 3 100;0;0 1.156 True ENSG00000127948 ENSG00000127948 HGNC:9208 PRDM9 gene PRDM9 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency, MONDO:0005387 34257419 False 3 100;0;0 1.156 True ENSG00000164256 ENSG00000164256 HGNC:13994 PREPL gene PREPL Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal "Myasthenic syndrome, congenital, 22, MIM# 616224;Hypergonadotropic hypogonadism" 34794894;28726805;30924587;32218803 False 3 100;0;0 1.156 True ENSG00000138078 ENSG00000138078 HGNC:30228 PROK2 gene PROK2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628 23341491;18559922;17959774;17054399;31200363;33819414 False 3 100;0;0 1.156 True ENSG00000163421 ENSG00000163421 HGNC:18455 PSMC3IP gene PSMC3IP Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 3, MIM# 614324 21963259;35352317;34878148;30406445;29240891 False 3 100;0;0 1.156 True ENSG00000131470 ENSG00000131470 HGNC:17928 QRICH2 gene QRICH2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 30683861;31292949 False 3 100;0;0 1.156 False ENSG00000129646 ENSG00000129646 HGNC:25326 RBBP7 gene RBBP7 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Infertility disorder, MONDO:0005047, RBBP7-related 39932629;37843278;35809576 False 3 100;0;0 1.156 True ENSG00000102054 ENSG00000102054 HGNC:9890 REC114 gene REC114 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 10, #MIM 619176 31704776;30388401;38148155 False 3 100;0;0 1.156 True ENSG00000183324 ENSG00000183324 HGNC:25065 RNF216 gene RNF216 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840 31200363;25841028;39444518;38050071 False 3 100;0;0 1.156 True ENSG00000011275 ENSG00000011275 HGNC:21698 RXFP2 gene RXFP2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, RXFP2-related 39222519;37208861;38430325 False 3 100;0;0 1.156 True ENSG00000133105 ENSG00000133105 HGNC:17318 SEMA3A gene SEMA3A Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 16 with or without anosmia, MIM# 614897 22416012;22927827;32060892;31200363;33819414 False 3 100;0;0 1.156 True ENSG00000075213 ENSG00000075213 HGNC:10723 SEPT12 gene SEPT12 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spermatogenic failure 10, MIM#614822 22479503;22275165;35547809 False 3 100;0;0 1.156 True ENSG00000140623 ENSG00000140623 HGNC:26348 SEPT4 gene SEPT4 Expert Review;Expert Review Green Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 99, MIM# 621194 36135717;15737931;15737930 False 3 100;0;0 1.156 True ENSG00000108387 ENSG00000108387 HGNC:9165 SLC26A8 gene SLC26A8 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spermatogenic failure 3, MIM# 606766 23582645;34923715;35181959 False 3 100;0;0 1.156 True ENSG00000112053 ENSG00000112053 HGNC:14468 SOHLH1 gene SOHLH1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ovarian dysgenesis 5, MIM #617690;Spermatogenic failure 32, MIM #618115 25774885;20506135;28718531;38448741;34448846 False 3 100;0;0 1.156 True ENSG00000165643 ENSG00000165643 HGNC:27845 SPAG17 gene SPAG17 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 55, MIM#619380 28548327;40330001;39686771 False 3 100;0;0 1.156 True ENSG00000155761 ENSG00000155761 HGNC:26620 SPAG6 gene SPAG6 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, SPAG6-related 35232447;38073178;32124190 False 3 100;0;0 1.156 True ENSG00000077327 ENSG00000077327 HGNC:11215 SPATA16 gene SPATA16 Expert Review Green;Victorian Clinical Genetics Services Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 6 MIM#102530;Spermatogenic failure 6 MONDO:0007060 17847006;27086357;29065458;30912172;33877510;39045326;40376536 False 3 50;50;0 1.156 True ENSG00000144962 ENSG00000144962 HGNC:29935 SPATA22 gene SPATA22 Expert Review;Expert Review Green Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 96, MIM#621001;Premature ovarian failure 25, MIM#621002 34392356;35413094;35285020 False 3 100;0;0 1.156 False ENSG00000141255 ENSG00000141255 HGNC:30705 SPEF2 gene SPEF2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 43, MIM# 618751 31151990;31278745;31048344;39753944;38568462 False 3 100;0;0 1.156 True ENSG00000152582 ENSG00000152582 HGNC:26293 SPIDR gene SPIDR Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 9, MIM# 619665 34794894;34697795;27967308;41393291 False 3 33;67;0 1.156 True ENSG00000164808 ENSG00000164808 HGNC:28971 SSX1 gene SSX1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females spermatogenic failure, X-linked, 5 MONDO:085947 36796361 False 3 100;0;0 1.156 False ENSG00000126752 ENSG00000126752 HGNC:11335 STAG3 gene STAG3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 8, MIM# 615723;Spermatogenic failure 61, MIM# 619672 24597867;26059840;28393351;30006057;32634216;31125047;31682730 False 3 100;0;0 1.156 True ENSG00000066923 ENSG00000066923 HGNC:11356 STAR gene STAR Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Lipoid adrenal hyperplasia, MIM# 201710 38913505;36733346 False 3 100;0;0 1.156 True ENSG00000147465 ENSG00000147465 HGNC:11359 SUN5 gene SUN5 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, SUN5-related 34159570;33671757;27640305 False 3 100;0;0 1.156 True ENSG00000167098 ENSG00000167098 HGNC:16252 SYCE1 gene SYCE1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 12, MIM# 616947, Spermatogenic failure 15 ,MIM# 616950 25062452;25899990;26203179;36373164;35718780;34718620 False 3 100;0;0 1.156 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171772 ENSG00000171772 HGNC:28852 SYCP2 gene SYCP2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 1, MIM# 258150;Hydatidiform mole 31866047;39202451;38511217;37337432;39545410 False 3 100;0;0 1.156 True ENSG00000196074 ENSG00000196074 HGNC:11490 SYCP2L gene SYCP2L Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 24, MIM# 620840 32303603;38521400 False 3 100;0;0 1.156 True ENSG00000153157 ENSG00000153157 HGNC:21537 TAC3 gene TAC3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839 20332248;20194706;34403359;19079066 False 3 100;0;0 1.156 True ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840 22031817;20332248;20194706;20395662;19755480;28915117;19079066 False 3 100;0;0 1.156 True ENSG00000169836 ENSG00000169836 HGNC:11528 TBC1D8 gene TBC1D8 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal non obstructive azoospermia or cryptozoospermia MONDO:0005372 41556581 False 3 100;0;0 1.156 False ENSG00000204634 ENSG00000204634 HGNC:17791 TBPL2 gene TBPL2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Inherited oocyte maturation defect, MONDO:0014769, TBPL2-related 37804378;33966269;33893736;33541821 False 3 100;0;0 1.156 True ENSG00000182521 ENSG00000182521 HGNC:19841 TDRD12 gene TDRD12 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, TDRD12-related 40750267;39122675 False 3 50;50;0 1.156 True ENSG00000173809 ENSG00000173809 HGNC:25044 TDRD6 gene TDRD6 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, TDRD6-related 39764564;39331689;38341271 False 3 50;50;0 1.156 True ENSG00000180113 ENSG00000180113 HGNC:21339 TDRD9 gene TDRD9 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 28536242;40645105;20059948;39267058;39174853;35172124 False 3 100;0;0 1.156 True ENSG00000156414 ENSG00000156414 HGNC:20122 TERB1 gene TERB1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, TERB1-related 38277113;35172124;33211200;32741963 False 3 100;0;0 1.156 True ENSG00000249961 ENSG00000249961 HGNC:26675 TEX11 gene TEX11 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure, X-linked 2, MIM# 309120 25970010;29661171;34621296;37124723 False 3 100;0;0 1.156 True ENSG00000120498 ENSG00000120498 HGNC:11733 TEX14 gene TEX14 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure MONDO:0004983, TEX14-related 16549803;40492599;28206990;29790874;36017582 False 3 100;0;0 1.156 True ENSG00000121101 ENSG00000121101 HGNC:11737 TEX15 gene TEX15 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 26199321;28355598;28303806 False 3 100;0;0 1.156 True ENSG00000133863 ENSG00000133863 HGNC:11738 TEX44 gene TEX44 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, TEX44-related 40849303 False 3 100;0;0 1.156 True ENSG00000177673 ENSG00000177673 HGNC:28563 TFDP3 gene TFDP3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Infertility disorder, MONDO:0005047, TFDP3-related 41634254 False 3 100;0;0 1.156 True ENSG00000183434 ENSG00000183434 HGNC:24603 TLE6 gene TLE6 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 15, #MIM 616814 26537248;31897846;40225929;32172300 False 3 100;0;0 1.156 True ENSG00000104953 ENSG00000104953 HGNC:30788 TP63 gene TP63 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 21, MIM# 620311 30924587;35801529;36856110;27798044 False 3 100;0;0 1.156 True ENSG00000073282 ENSG00000073282 HGNC:15979 TRIP13 gene TRIP13 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 9, #MIM 619011;Mosaic variegated aneuploidy syndrome 3, #MIM 617598 32473092;28553959;35812326 False 3 100;0;0 1.156 True ENSG00000071539 ENSG00000071539 HGNC:12307 TTC21A gene TTC21A Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 30929735 False 3 100;0;0 1.156 False ENSG00000168026 ENSG00000168026 HGNC:30761 TTC29 gene TTC29 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 31735292 False 3 100;0;0 1.156 False ENSG00000137473 ENSG00000137473 HGNC:29936 TUBA1C gene TUBA1C Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 24, MIM# 621232 39209701 False 3 100;0;0 1.156 True ENSG00000167553 ENSG00000167553 HGNC:20768 TUBA4A gene TUBA4A Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Oocyte/zygote/embryo maturation arrest 23, MIM# 621231" 39209701;37024973;37024973 False 3 100;0;0 1.156 True ENSG00000127824 ENSG00000127824 HGNC:12407 TUBB8 gene TUBB8 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 2, MIM# 616780 26789871;27273344;33970371;39834092 False 3 100;0;0 1.156 True ENSG00000173876 ENSG00000261456 HGNC:20773 TWNK gene TWNK Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 5, MIM# 616138 28178980;26970254;25355836;25355836;32281099;31852434;31455392 False 3 100;0;0 1.156 True ENSG00000107815 ENSG00000107815 HGNC:1160 UBE2B gene UBE2B Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Male infertility, MONDO:0005372 23378580;26223869;12784252 False 3 100;0;0 1.156 True ENSG00000119048 ENSG00000119048 HGNC:12473 WDR11 gene WDR11 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 14 with or without anosmia, MIM# 614858 20887964, 37988663;36130823;35722485;32982993;29263200 False 3 100;0;0 1.156 True ENSG00000120008 ENSG00000120008 HGNC:13831 WDR66 gene WDR66 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 30122540;30122541 False 3 100;0;0 1.156 False ENSG00000158023 ENSG00000158023 HGNC:28506 WEE2 gene WEE2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 5, MIM# 617996 29606300;30628060;39476306;37772619;36568932;34476630 False 3 100;0;0 1.156 True ENSG00000214102 ENSG00000214102 HGNC:19684 WT1 gene WT1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian failure, MONDO:0005387, WT1-related 26358501;34845858 False 3 100;0;0 1.156 True ENSG00000184937 ENSG00000184937 HGNC:12796 YTHDC2 gene YTHDC2 Expert Review Green;Genomics England PanelApp Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Primary ovarian failure, MONDO:0005387 29033321, 29360036, 35138268 False 3 100;0;0 1.156 True ENSG00000047188 ENSG00000047188 HGNC:24721 ZFP36L2 gene ZFP36L2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 13, MIM# 620154 34611029;38829516;37211617 False 3 100;0;0 1.156 True ENSG00000152518 ENSG00000152518 HGNC:1108 ZP1 gene ZP1 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 1, MIM# 615774 24670168;30810869;36385415;39380244;36529558 False 3 100;0;0 1.156 True ENSG00000149506 ENSG00000149506 HGNC:13187 ZP2 gene ZP2 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 6, MIM# 618353 29895852;30810869;39443359;33604805 False 3 100;0;0 1.156 True ENSG00000103310 ENSG00000103310 HGNC:13188 ZP3 gene ZP3 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 3, MIM# 617712 28886344;30810869;39932488;37908588 False 3 100;0;0 1.156 True ENSG00000188372 ENSG00000188372 HGNC:13189 ZSWIM7 gene ZSWIM7 Expert Review Green;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 71 MONDO:0030787;Ovarian dysgenesis 10 MONDO:0030736 32719396, 33713115, 40991243, 34402903 False 3 100;0;0 1.156 True ENSG00000214941 ENSG00000214941 HGNC:26993 AKAP3 gene AKAP3 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 35228300;31969357 False 2 0;100;0 1.156 False ENSG00000111254 ENSG00000111254 HGNC:373 APBB1 gene APBB1 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Infertility disorder, MONDO:0005047, APBB1-related 40151319 False 2 0;100;0 1.156 True ENSG00000166313 ENSG00000166313 HGNC:581 ATG4D gene ATG4D Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal "Spermatogenic failure 101, MIM# 621269" 33988247 False 2 0;100;0 1.156 True ENSG00000130734 ENSG00000130734 HGNC:20789 BRCA2 gene BRCA2 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 32482800;30207912 False 2 50;50;0 1.156 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRDT gene BRDT Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure MONDO:0004983 32469048;28199965;22922464 False 2 0;100;0 1.156 False ENSG00000137948 ENSG00000137948 HGNC:1105 C11orf80 gene C11orf80 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, C11orf80-related;hydatidiform mole, recurrent, 4, MONDO:0032747 30388401;36732965;41644825;30388401 False 2 0;100;0 1.156 True ENSG00000173715 ENSG00000173715 HGNC:26197 C4BPA gene C4BPA Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted recurrent pregnancy loss susceptibility MONDO:0000144, C4BPA-related 23508668 False 2 0;100;0 1.156 True ENSG00000123838 ENSG00000123838 HGNC:1325 CAPS gene CAPS Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CAPS-related 30339840 False 2 0;100;0 1.156 True ENSG00000105519 ENSG00000105519 HGNC:1487 CAPZA1 gene CAPZA1 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047 41858859 False 2 0;100;0 1.156 True ENSG00000116489 ENSG00000116489 HGNC:1488 CCDC113 gene CCDC113 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, CCDC113-related 41645397;41645397 False 2 0;100;0 1.156 True ENSG00000103021 ENSG00000103021 HGNC:25002 CCDC89 gene CCDC89 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 40591933 False 2 0;100;0 1.156 True ENSG00000179071 ENSG00000179071 HGNC:26762 CFAP206 gene CFAP206 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 102, MIM# 621387 34255152 False 2 0;100;0 1.156 True ENSG00000272514 ENSG00000272514 HGNC:21405 CPEB1 gene CPEB1 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency, MONDO:0005387, CPEB1-related 21256485;27003306;33095795;32354341 False 2 50;50;0 1.156 True ENSG00000214575 ENSG00000214575 HGNC:21744 DDOST gene DDOST Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal inherited oocyte maturation defect MONDO:0014769 41005306 False 2 0;100;0 1.156 True ENSG00000244038 ENSG00000244038 HGNC:2728 FGA gene FGA Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent pregnancy loss 29016666;34925444 False 2 100;0;0 1.156 True ENSG00000171560 ENSG00000171560 HGNC:3661 FKBP4 gene FKBP4 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent pregnancy loss susceptibility, MONDO:0000144, FKBP4-related 31504499 False 2 0;100;0 1.156 True ENSG00000004478 ENSG00000004478 HGNC:3720 FRAS1 gene FRAS1 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1, MIM# 219000 33772059;32643034 False 2 100;0;0 1.156 True ENSG00000138759 ENSG00000138759 HGNC:19185 GBE1 gene GBE1 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM# 232500 33772059;25489661;26166723 False 2 100;0;0 1.156 True ENSG00000114480 ENSG00000114480 HGNC:4180 HELB gene HELB Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure, MONDO:0019852, HELB-related 41212051 False 2 0;100;0 1.156 True ENSG00000127311 ENSG00000127311 HGNC:17196 HNRNPR gene HNRNPR Expert list;Expert Review Amber Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure (MONDO:0004983), HNRNPR-related 41618099 False 2 0;100;0 1.156 False ENSG00000125944 ENSG00000125944 HGNC:5047 INCENP gene INCENP Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest MONDO:0014769, INCENP-related 41005306 False 2 0;100;0 1.156 True ENSG00000149503 ENSG00000149503 HGNC:6058 IQUB gene IQUB Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, IQUB-related 39849482;36355624 False 2 0;100;0 1.156 True ENSG00000164675 ENSG00000164675 HGNC:21995 KPNA7 gene KPNA7 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 17, #MIM 620319 36647821 False 2 50;50;0 1.156 True ENSG00000185467 ENSG00000185467 HGNC:21839 MAJIN gene MAJIN Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Recurrent hydatidiform mole, non-obstructive azoospermia 39545410;33211200 False 2 0;100;0 1.156 True ENSG00000168070 ENSG00000168070 HGNC:27441 MDC1 gene MDC1 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Oligoasthenoteratozoospermia, MONDO:0850098, MDC1-related PMID: 40954969, 34089056 False 2 0;100;0 1.156 True ENSG00000137337 ENSG00000137337 HGNC:21163 MRPS22 gene MRPS22 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 7, MIM# 618117 29566152;31042289 False 2 50;50;0 1.156 True ENSG00000175110 ENSG00000175110 HGNC:14508 MTHFR gene MTHFR Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Homocystinuria due to MTHFR deficiency MIM#236250;Recurrent pregnancy loss susceptibility 37260775;39534907;38322638 False 2 0;100;0 1.156 True ENSG00000177000 ENSG00000177000 HGNC:7436 MUSK gene MUSK Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 1, MIM# 208150 25612909;25537362;31750350;38566418 False 2 0;100;0 1.156 True ENSG00000030304 ENSG00000030304 HGNC:7525 NANOS1 gene NANOS1 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted spermatogenic failure MONDO:0004983 23315541 False 2 0;100;0 1.156 False ENSG00000188613 ENSG00000188613 HGNC:23044 NKAPL gene NKAPL Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spermatogenic failure, MONDO:0004983, NKAPL-related 39824811 False 2 0;100;0 1.156 False ENSG00000189134 ENSG00000189134 HGNC:21584 NLRP14 gene NLRP14 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Inherited oocyte maturation defect, MONDO:0014769, NLRP14-related and early embryo arrest 38060382 False 2 0;100;0 1.156 True ENSG00000158077 ENSG00000158077 HGNC:22939 NXT2 gene NXT2 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure, MONDO:0004983, NXT2-related PMID: 40624043;35013161 False 2 0;100;0 1.156 True ENSG00000101888 ENSG00000101888 HGNC:18151 OOEP gene OOEP Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Recurrent preimplantation embryonic arrest;Female infertility due to oocyte meiotic arrest, MONDO:0044626 35946397 False 2 0;100;0 1.156 True ENSG00000203907 ENSG00000203907 HGNC:21382 PIWIL1 gene PIWIL1 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, PIWIL1-related 41706354;39122675;37335463;36379263;33877510;28552346 False 2 0;100;0 1.156 True ENSG00000125207 ENSG00000125207 HGNC:9007 POF1B gene POF1B Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Premature ovarian failure 2B, MIM# 300604 16773570;34707299;25676666;34423420 False 2 50;50;0 1.156 True ENSG00000124429 ENSG00000124429 HGNC:13711 RAD51AP2 gene RAD51AP2 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, RAD51AP2-related 41644825;36153927 False 2 0;100;0 1.156 True ENSG00000214842 ENSG00000214842 HGNC:34417 REC8 gene REC8 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, REC8-related 34794894;15515002;34707299;35172124;31479588 False 2 0;100;0 1.156 True ENSG00000100918 ENSG00000100918 HGNC:16879 RNF212B gene RNF212B Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, RNF212B-related;Female and male infertility with recurrent medically assisted reproduction (MAR) failures. 40259604;37124137 False 2 0;100;0 1.156 True ENSG00000215277 ENSG00000215277 HGNC:20438 SYCP3 gene SYCP3 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spermatogenic failure 4, Recurrent pregnancy loss 4, MIM# 270960 14643120;19110213 False 2 50;50;0 1.156 True ENSG00000139351 ENSG00000139351 HGNC:18130 TACC3 gene TACC3 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Female infertility due to oocyte meiotic arrest, MONDO:0044626 36395215 False 2 50;50;0 1.156 True ENSG00000013810 ENSG00000013810 HGNC:11524 TEKT3 gene TEKT3 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, TEKT3-related 36708031 False 2 0;100;0 1.156 True ENSG00000125409 ENSG00000125409 HGNC:14293 TIMP2 gene TIMP2 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent pregnancy loss susceptibility, MONDO:0000144, TIMP2-related 20847186;34756330 False 2 0;100;0 1.156 True ENSG00000035862 ENSG00000035862 HGNC:11821 TULP2 gene TULP2 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal male infertility MONDO:0005372 35619658: 33763418;40613306 False 2 0;100;0 1.156 True ENSG00000104804 ENSG00000104804 HGNC:12424 USP26 gene USP26 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure, X-linked 6, MIM# 301101 34202084;27089915 False 2 50;50;0 1.156 True ENSG00000134588 ENSG00000134588 HGNC:13485 WNT6 gene WNT6 Expert Review Amber;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted recurrent pregnancy loss susceptibility, MONDO:0000144 36385415;25750203 False 2 50;50;0 1.156 True ENSG00000115596 ENSG00000115596 HGNC:12785 ACR gene ACR Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 37004249 False 1 0;0;100 1.156 False ENSG00000100312 ENSG00000100312 HGNC:126 ASIC5 gene ASIC5 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Unexplained recurrent pregnancy loss PMID: 34395479 False 1 0;50;50 1.156 True ENSG00000256394 ENSG00000256394 HGNC:17537 C1orf146 gene C1orf146 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Infertility disorder, MONDO:0005047, C1orf146-related 40374915;37270785 False 1 0;0;100 1.156 True ENSG00000203910 ENSG00000203910 HGNC:24032 CCDC189 gene CCDC189 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, CCDC189-related 40759592 False 1 0;0;100 1.156 True ENSG00000196118 ENSG00000196118 HGNC:28078 CHRNA1 gene CHRNA1 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290 23037934;18252226 False 1 0;0;100 1.156 True ENSG00000138435 ENSG00000138435 HGNC:1955 CT55 gene CT55 Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure MONDO:0004983 36481789 False 1 0;0;100 1.156 False ENSG00000169551 ENSG00000169551 HGNC:26047 KIF14 gene KIF14 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, MIM# 616258 24128419;30388224 False 1 50;0;50 1.156 True ENSG00000118193 ENSG00000118193 HGNC:19181 NUP210L gene NUP210L Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 20034429;33332558 False 1 0;0;100 1.156 False ENSG00000143552 ENSG00000143552 HGNC:29915 NXF3 gene NXF3 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females Spermatogenic failure, MONDO:0004983, NXF3-related 40624043 False 1 0;0;100 1.156 True ENSG00000147206 ENSG00000147206 HGNC:8073 PACRG gene PACRG Expert Review Red;Victorian Clinical Genetics Services Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure, MONDO:0004983, PACRG-related 40298292;34089056 False 1 0;0;100 1.156 True ENSG00000112530 ENSG00000112530 HGNC:19152 PDCD2 gene PDCD2 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Non-immune hydrops fetalis, MONDO:0009369;Recurrent pregnancy loss susceptibility, MONDO:0000144 40208938 False 1 0;50;50 1.156 True ENSG00000071994 ENSG00000071994 HGNC:8762 PDHA2 gene PDHA2 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 70, MIM# 619828 29581481;35172124 False 1 50;0;50 1.156 True ENSG00000163114 ENSG00000163114 HGNC:8807 PIEZO1 gene PIEZO1 Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Lymphatic malformation 6, MIM# 616843 33772059;30244526;26333996 False 1 50;0;50 1.156 True ENSG00000103335 ENSG00000103335 HGNC:28993 SCN5A gene SCN5A Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BOTH monoallelic and biallelic, autosomal or pseudoautosomal 33772059;32421437;23571586;15184283 False 1 50;0;50 1.156 True ENSG00000183873 ENSG00000183873 HGNC:10593 SMC1B gene SMC1B Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Infertility disorder, MONDO:0005047, SMC1B-related 40180776;27603904 False 1 0;0;100 1.156 False ENSG00000077935 ENSG00000077935 HGNC:11112 SPACA1 gene SPACA1 Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 34172998;22949614 False 1 0;0;100 1.156 False ENSG00000118434 ENSG00000118434 HGNC:14967 SPINK2 gene SPINK2 Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 28554943 False 1 0;0;100 1.156 False ENSG00000128040 ENSG00000128040 HGNC:11245 STIL gene STIL Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Primary microcephaly 7, autosomal recessive, MIM# 612703 29230157;33772059 False 1 0;50;50 1.156 True ENSG00000123473 ENSG00000123473 HGNC:10879 TAF4B gene TAF4B Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 24431330;15774719 False 1 0;0;100 1.156 False ENSG00000141384 ENSG00000141384 HGNC:11538 TCFL5 gene TCFL5 Literature Infertility and Recurrent Pregnancy Loss MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oligoasthenoteratozoospermia MONDO:0850098 PMID: 40711600 False 1 0;0;100 1.156 False ENSG00000101190 ENSG00000101190 HGNC:11646 TSGA10 gene TSGA10 Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 28905369 False 1 0;0;100 1.156 False ENSG00000135951 ENSG00000135951 HGNC:14927 TTN gene TTN Expert Review Red;Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome, MONDO:0017436 36977548;38148006;29575618 False 1 50;0;50 1.156 True ENSG00000155657 ENSG00000155657 HGNC:12403 ZNF185 gene ZNF185 Literature Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Azoospermia MONDO:0100459, ZNF185-related 39267058 False 1 0;0;100 1.156 False ENSG00000147394 ENSG00000147394 HGNC:12976 ZNF597 gene ZNF597 Expert Review Red;Literature;Research Infertility and Recurrent Pregnancy Loss Other 28157578;28157578;2576657 False 1 0;0;100 1.156 True Other ENSG00000167981 ENSG00000167981 HGNC:26573 ZPBP gene ZPBP Literature Infertility and Recurrent Pregnancy Loss BIALLELIC, autosomal or pseudoautosomal spermatogenic failure MONDO:0004983 31985809;17664285 False 1 0;0;100 1.156 False ENSG00000042813 ENSG00000042813 HGNC:15662 ISCA-37494-Loss region RAB39B ClinGen;ClinGen Infertility and Recurrent Pregnancy Loss X-LINKED: hemizygous mutation in males, biallelic mutations in females PMID: 25927380, 21984752 False 1 100;0;0 1.156 False ENSG00000155961 ENSG00000155961 HGNC:16499 X 154890328 155335092 3 80 cnv_loss Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss