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 ANTXR1 gene ANTXR1 Expert Review Red;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome MIM#230740 Premature ovarian insufficiency;HP:0008209 34794894;27426988;16272061;2248288;17262136 False 1 0;0;100 0.414 True ENSG00000169604 ENSG00000169604 HGNC:21014 ATG9A gene ATG9A Expert Review Red;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;30224786 False 1 0;0;100 0.414 True ENSG00000198925 ENSG00000198925 HGNC:22408 AXL gene AXL Expert Review Red;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kallman syndrome;normosmic idiopathic hypogonadotropic hypogonadism Premature ovarian insufficiency;HP:0008209 18787040;24476074 False 1 0;50;50 0.414 True ENSG00000167601 ENSG00000167601 HGNC:905 BMP8B gene BMP8B Expert Review Red;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;33095795;10894154;22579288 False 1 0;0;100 0.414 True ENSG00000116985 ENSG00000116985 HGNC:1075 BMPR2 gene BMPR2 Expert Review Red;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;33095795;28306340;25989972 False 1 0;0;100 0.414 True ENSG00000204217 ENSG00000204217 HGNC:1078 BTG4 gene BTG4 Expert Review Red;Genetic Health QLD;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Oocyte maturation defect, MIM#619009 Premature ovarian insufficiency;HP:0008209 32502391 False 1 50;0;50 0.414 True ENSG00000137707 ENSG00000137707 HGNC:13862 DACH2 gene DACH2 Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian failure, MONDO:0005387, DACH2-related Premature ovarian insufficiency;HP:0008209 15459172 False 1 0;0;100 0.414 True ENSG00000126733 ENSG00000126733 HGNC:16814 DIAPH2 gene DIAPH2 Expert Review Red;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Premature ovarian failure 2A 300511 Premature ovarian insufficiency;HP:0008209 False 1 0;0;100 0.414 True ENSG00000147202 ENSG00000147202 HGNC:2877 DUSP6 gene DUSP6 Expert Review Red;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 19 with or without anosmia 615269 Premature ovarian insufficiency;HP:0008209 False 1 0;0;100 0.414 True ENSG00000139318 ENSG00000139318 HGNC:3072 FGF8 gene FGF8 Expert Review Red;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 6 with or without anosmia 612702 Premature ovarian insufficiency;HP:0008209 False 1 50;0;50 0.414 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Red;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Premature ovarian insufficiency;HP:0008209 18034870 False 1 50;0;50 0.414 True ENSG00000077782 ENSG00000077782 HGNC:3688 FLRT3 gene FLRT3 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 21 with anosmia 615271 Premature ovarian insufficiency;HP:0008209 23643382;31200363 False 1 0;0;100 0.414 True ENSG00000125848 ENSG00000125848 HGNC:3762 GJA4 gene GJA4 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;29207017 False 1 0;0;100 0.414 False ENSG00000187513 ENSG00000187513 HGNC:4278 HNF1B gene HNF1B Expert Review Red;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome 137920 AD Premature ovarian insufficiency;HP:0008209 False 1 0;0;100 0.414 True ENSG00000108753 ENSG00000275410 HGNC:11630 HS6ST1 gene HS6ST1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Premature ovarian insufficiency;HP:0008209 False 1 0;0;100 0.414 True ENSG00000136720 ENSG00000136720 HGNC:5201 IL17RD gene IL17RD Expert Review Amber;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 18 with or without anosmia 615267 Premature ovarian insufficiency;HP:0008209 32389901;23643382 False 1 0;0;100 0.414 True ENSG00000144730 ENSG00000144730 HGNC:17616 KISS1R gene KISS1R Expert List;Expert Review Red Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837 Premature ovarian insufficiency;HP:0008209 23349759, 22619348, 21193544, 17164310, 14573733, 27094476, 33819414 False 1 50;0;50 0.414 True ENSG00000116014 ENSG00000116014 HGNC:4510 NOG gene NOG Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Symphalangism, proximal, 1A MIM#185800 Premature ovarian insufficiency;HP:0008209 15066478;22088931;17381491 False 1 0;0;100 0.414 True ENSG00000183691 ENSG00000183691 HGNC:7866 PANX1 gene PANX1 Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oocyte maturation defect 7, MIM# 618550 Premature ovarian insufficiency;HP:0008209 30918116;32838805 False 1 0;0;100 0.414 True ENSG00000110218 ENSG00000110218 HGNC:8599 PATL2 gene PATL2 Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Oocyte maturation defect 4, MIM# 617743 Premature ovarian insufficiency;HP:0008209 28965844;28965849;32048119;30765866 False 1 0;0;100 0.414 True ENSG00000229474 ENSG00000229474 HGNC:33630 PGRMC1 gene PGRMC1 Expert Review Red;Genetic Health QLD 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 25246111;18782852 False 1 0;0;100 0.414 True ENSG00000101856 ENSG00000101856 HGNC:16090 POU5F1 gene POU5F1 Expert Review Red;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, POU5F1-related Premature ovarian insufficiency;HP:0008209 21273125;33095795 False 1 0;0;100 0.414 True ENSG00000204531 ENSG00000204531 HGNC:9221 PRDM1 gene PRDM1 Expert Review Red;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;33095795 False 1 0;0;100 0.414 True ENSG00000057657 ENSG00000057657 HGNC:9346 PROK2 gene PROK2 Expert List;Expert Review Red Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628 Premature ovarian insufficiency;HP:0008209 23341491, 18559922, 17959774, 17054399, 31200363, 33819414 False 1 50;0;50 0.414 True ENSG00000163421 ENSG00000163421 HGNC:18455 RCBTB1 gene RCBTB1 Expert list;Expert Review Red Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with or without extraocular anomalies MIM#617175 Premature ovarian insufficiency;HP:0008209 27486781 False 1 50;0;50 0.414 True ENSG00000136144 ENSG00000136144 HGNC:18243 SEMA3A gene SEMA3A Expert List;Expert Review Red Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 16 with or without anosmia, MIM# 614897 Premature ovarian insufficiency;HP:0008209 22416012, 22927827, 32060892, 31200363, 33819414 False 1 50;0;50 0.414 True ENSG00000075213 ENSG00000075213 HGNC:10723 SGO2 gene SGO2 Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome Premature ovarian insufficiency;HP:0008209 27629923 False 1 0;0;100 0.414 True ENSG00000163535 ENSG00000163535 HGNC:30812 SOHLH2 gene SOHLH2 Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited premature ovarian failure MONDO:0019852, SOHLH2-related Premature ovarian insufficiency;HP:0008209 24524832;19014927 False 1 0;0;100 0.414 True ENSG00000120669 ENSG00000120669 HGNC:26026 SWSAP1 gene SWSAP1 Expert Review Red;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency, MONDO:0005387, SWSAP1-related Premature ovarian insufficiency;HP:0008209 40991243 False 1 0;0;100 0.414 True ENSG00000173928 ENSG00000173928 HGNC:26638 TUBB8 gene TUBB8 Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oocyte maturation defect 2, MIM# 616780 Premature ovarian insufficiency;HP:0008209 26789871;27273344 False 1 0;0;100 0.414 True ENSG00000173876 ENSG00000261456 HGNC:20773 TUFM gene TUFM Expert Review Red;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Inherited primary ovarian failure MONDO:0019852, TUFM-related Premature ovarian insufficiency;HP:0008209 37468454 False 1 0;0;100 0.414 True ENSG00000178952 ENSG00000178952 HGNC:12420 UBR2 gene UBR2 Expert Review Red;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian failure Premature ovarian insufficiency;HP:0008209 33095795;34794894 False 1 0;0;100 0.414 True ENSG00000024048 ENSG00000024048 HGNC:21289 WDR11 gene WDR11 Expert List;Expert Review Red Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 14 with or without anosmia, MIM# 614858 Premature ovarian insufficiency;HP:0008209 20887964, 37988663, 36130823, 35722485, 32982993, 29263200 False 1 50;0;50 0.414 True ENSG00000120008 ENSG00000120008 HGNC:13831 WEE2 gene WEE2 Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Oocyte maturation defect 5, MIM# 617996 Premature ovarian insufficiency;HP:0008209 29606300;30628060 False 1 0;0;100 0.414 True ENSG00000214102 ENSG00000214102 HGNC:19684 XRCC2 gene XRCC2 Expert list;Expert Review Red Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Premature ovarian failure 17, MIM# 619146;Spermatogenic failure, MIM# 619145" Premature ovarian insufficiency;HP:0008209 30489636;30042186 False 1 0;0;100 0.414 True ENSG00000196584 ENSG00000196584 HGNC:12829 XRCC4 gene XRCC4 Expert Review Red;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction MIM#616541 Premature ovarian insufficiency;HP:0008209 25742519;34794894 False 1 0;0;100 0.414 True ENSG00000152422 ENSG00000152422 HGNC:12831 ZP1 gene ZP1 Expert Review Red;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oocyte maturation defect 1, MIM# 615774 Premature ovarian insufficiency;HP:0008209 24670168;30810869;32573113;33272616 False 1 0;0;100 0.414 True ENSG00000149506 ENSG00000149506 HGNC:13187 ZP2 gene ZP2 Expert Review Red;Genetic Health QLD;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Oocyte maturation defect 6, MIM# 618353;Female infertility" Premature ovarian insufficiency;HP:0008209 30810869;29895852 False 1 0;0;100 0.414 True ENSG00000103310 ENSG00000103310 HGNC:13188