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 AMH gene AMH Expert Review Amber;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insuffiency Premature ovarian insufficiency;HP:0008209 25750103 False 2 0;100;0 0.339 True ENSG00000104899 ENSG00000104899 HGNC:464 AMHR2 gene AMHR2 Expert Review Amber;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 24912417;24146295 False 2 0;50;50 0.339 True ENSG00000135409 ENSG00000135409 HGNC:465 ATG7 gene ATG7 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 31 MIM#619422;primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;34161705;30224786;25590799 False 2 0;100;0 0.339 True ENSG00000197548 ENSG00000197548 HGNC:16935 BMPR1A gene BMPR1A Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 28505269;34794894;31769494;20363875 False 2 0;100;0 0.339 True ENSG00000107779 ENSG00000107779 HGNC:1076 BMPR1B gene BMPR1B Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Acromesomelic dysplasia 3 MIM#609441;primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;15805157;28505269;31769494 False 2 0;100;0 0.339 True ENSG00000138696 ENSG00000138696 HGNC:1077 BUB1B gene BUB1B Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure Premature ovarian insufficiency;HP:0008209 32716490 False 2 0;100;0 0.339 True ENSG00000156970 ENSG00000156970 HGNC:1149 CCDC141 gene CCDC141 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Unknown Anosmic hypogonadotropic hypogonadism Premature ovarian insufficiency;HP:0008209 27014940;28324054;25192046 False 2 0;100;0 0.339 True ENSG00000163492 ENSG00000163492 HGNC:26821 CHD7 gene CHD7 Expert Review Amber;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 5 with or without anosmia 612370;CHARGE syndrome 214800 Premature ovarian insufficiency;HP:0008209 18834967 False 2 0;100;0 0.339 True ENSG00000171316 ENSG00000171316 HGNC:20626 CPEB1 gene CPEB1 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency, MONDO:0005387, CPEB1-related Premature ovarian insufficiency;HP:0008209 34794894;33095795;32354341;30689869;11702780 False 2 0;100;0 0.339 True ENSG00000214575 ENSG00000214575 HGNC:21744 DAZL gene DAZL Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian failure, MONDO:0005387, DAZL-related Premature ovarian insufficiency;HP:0008209 34794894;33095795;16884537;9288969 False 2 0;100;0 0.339 True ENSG00000092345 ENSG00000092345 HGNC:2685 DMC1 gene DMC1 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency;non-obstructive azoospermia Premature ovarian insufficiency;HP:0008209 34794894;29331980;9660954;9660953 False 2 0;100;0 0.339 True ENSG00000100206 ENSG00000100206 HGNC:2927 EIF4ENIF1 gene EIF4ENIF1 Expert Review Amber;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related Premature ovarian insufficiency;HP:0008209 31810472;23902945;33095795 False 2 0;100;0 0.339 True ENSG00000184708 ENSG00000184708 HGNC:16687 ERAL1 gene ERAL1 Expert list;Expert Review Amber;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, MIM# 617565 Premature ovarian insufficiency;HP:0008209 28449065 False 2 0;100;0 0.339 True ENSG00000132591 ENSG00000132591 HGNC:3424 ERCC6 gene ERCC6 Expert Review Amber;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 11 616946 Premature ovarian insufficiency;HP:0008209 False 2 0;100;0 0.339 True ENSG00000225830 ENSG00000225830 HGNC:3438 ESR2 gene ESR2 Expert Review Amber;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Ovarian dysgenesis 8 618187 Premature ovarian insufficiency;HP:0008209 False 2 0;100;0 0.339 True ENSG00000140009 ENSG00000140009 HGNC:3468 FANCA gene FANCA Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary ovarian insufficiency;Fanconi anemia, complementation group A MIM#227650 Premature ovarian insufficiency;HP:0008209 34794894;33025164;31535215;10915769 False 2 0;100;0 0.339 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCC gene FANCC Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C MIM#227645 Premature ovarian insufficiency;HP:0008209 34794894;8630504 False 2 0;100;0 0.339 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCI gene FANCI Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian insufficiency;HP:0008209 38483614 False 2 0;100;0 0.339 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary ovarian insufficiency;Fanconi anemia, complementation group L MIM#614083 Premature ovarian insufficiency;HP:0008209 32048394;32851770;11823446 False 2 0;100;0 0.339 True ENSG00000115392 ENSG00000115392 HGNC:20748 FEZF1 gene FEZF1 Expert Review Amber;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 22, with or without anosmia 616030 Premature ovarian insufficiency;HP:0008209 False 2 0;100;0 0.339 True ENSG00000128610 ENSG00000128610 HGNC:22788 FGF17 gene FGF17 Expert Review Amber;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 20 with or without anosmia 615270 Premature ovarian insufficiency;HP:0008209 False 2 0;100;0 0.339 True ENSG00000158815 ENSG00000158815 HGNC:3673 GATA4 gene GATA4 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary ovarian insufficiency;congenital heart defect Premature ovarian insufficiency;HP:0008209 34794894;33095795;29544631 False 2 0;100;0 0.339 True ENSG00000136574 ENSG00000136574 HGNC:4173 HELQ gene HELQ Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;24005329;33095795 False 2 0;100;0 0.339 True ENSG00000163312 ENSG00000163312 HGNC:18536 IGSF10 gene IGSF10 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal delayed puberty;hypogonadotropic hypogonadism Premature ovarian insufficiency;HP:0008209 27137492;31042289 False 2 0;100;0 0.339 True ENSG00000152580 ENSG00000152580 HGNC:26384 INSL3 gene INSL3 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;33095795;10391220;30204868 False 2 0;100;0 0.339 True ENSG00000248099 ENSG00000248099 HGNC:6086 KISS1 gene KISS1 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 Premature ovarian insufficiency;HP:0008209 22335740;25783047;22766261;17563351 False 2 0;100;0 0.339 True ENSG00000170498 ENSG00000170498 HGNC:6341 MEIOB gene MEIOB Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;24068956;31000419 False 2 0;100;0 0.339 True ENSG00000162039 ENSG00000162039 HGNC:28569 MGA gene MGA Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 26, MIM# 621065 Premature ovarian insufficiency;HP:0008209 39545409 False 2 0;100;0 0.339 True ENSG00000174197 ENSG00000174197 HGNC:14010 MRPL50 gene MRPL50 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO: 004470, MRPL50-related Premature ovarian insufficiency;HP:0008209 PMID: 37148394 False 2 0;100;0 0.339 True ENSG00000136897 ENSG00000136897 HGNC:16654 MRPS7 gene MRPS7 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 34, MIM# 617872;sensorineural deafness;renal failure;liver failure;primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 PMID: 25556185;36421788 False 2 0;100;0 0.339 True ENSG00000125445 ENSG00000125445 HGNC:14499 MSH5 gene MSH5 Expert Review Amber;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 13 MIM#617442 Premature ovarian insufficiency;HP:0008209 28175301;9916805;24970489 False 2 0;100;0 0.339 True ENSG00000204410 ENSG00000204410 HGNC:7328 NANOS3 gene NANOS3 Expert Review Amber;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 25054146;24091668 False 2 0;100;0 0.339 True ENSG00000187556 ENSG00000187556 HGNC:22048 PEX6 gene PEX6 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome Premature ovarian insufficiency;HP:0008209 32399598;31555682 False 2 25;25;50 0.339 True ENSG00000124587 ENSG00000124587 HGNC:8859 POF1B gene POF1B Expert Review Amber;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Premature ovarian failure 2B, MIM# 300604 Premature ovarian insufficiency;HP:0008209 16773570;25676666 False 2 0;100;0 0.339 True ENSG00000124429 ENSG00000124429 HGNC:13711 POLR2C gene POLR2C Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;29367954 False 2 0;100;0 0.339 True ENSG00000102978 ENSG00000102978 HGNC:9189 POLR3H gene POLR3H Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;30830215 False 2 0;100;0 0.339 True ENSG00000100413 ENSG00000100413 HGNC:30349 REC8 gene REC8 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;15515002;34707299 False 2 0;100;0 0.339 True ENSG00000100918 ENSG00000100918 HGNC:16879 SPATA22 gene SPATA22 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian insufficiency and nonobstructive azoospermia;Genetic infertility MONDO:0017143 Premature ovarian insufficiency;HP:0008209 PMID: 35285020 False 2 0;100;0 0.339 True ENSG00000141255 ENSG00000141255 HGNC:30705 SPIDR gene SPIDR Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 9, MIM# 619665 Premature ovarian insufficiency;HP:0008209 34794894;34697795;27967308 False 2 0;100;0 0.339 True ENSG00000164808 ENSG00000164808 HGNC:28971 WDR62 gene WDR62 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency Premature ovarian insufficiency;HP:0008209 34794894;30102701 False 2 0;100;0 0.339 True ENSG00000075702 ENSG00000075702 HGNC:24502 ZNF483 gene ZNF483 Expert Review Amber;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted primary ovarian failure MONDO:0005387 Premature ovarian insufficiency;HP:0008209 38951643 False 2 0;100;0 0.339 True ENSG00000173258 ENSG00000173258 HGNC:23384