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 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 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 1.157 True ENSG00000115596 ENSG00000115596 HGNC:12785