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;NHS GMS;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, progressive, with ovarian failure 615889 Premature ovarian insufficiency;HP:0008209 30706699;27839525;21549344;25058219;24808023 False 3 100;0;0 0.339 True ENSG00000124608 ENSG00000124608 HGNC:21022 AIRE gene AIRE Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 True Other ENSG00000160224 ENSG00000160224 HGNC:360 ANKRD31 gene ANKRD31 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure, MONDO:0019852, ANKDR31-related Premature ovarian insufficiency;HP:0008209 34794894;34257419;31003867 False 3 100;0;0 0.339 True ENSG00000145700 ENSG00000145700 HGNC:26853 ANOS1 gene ANOS1 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 Premature ovarian insufficiency;HP:0008209 1594017;8504298;8989261 False 3 100;0;0 0.339 True ENSG00000011201 ENSG00000011201 HGNC:6211 BLM gene BLM Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bloom syndrome MIM#210900 Premature ovarian insufficiency;HP:0008209 34794894;29056561;28846287 False 3 100;0;0 0.339 True ENSG00000197299 ENSG00000197299 HGNC:1058 BMP15 gene BMP15 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Other Ovarian dysgenesis 2, MIM# 300510;Premature ovarian failure 4, MIM# 300510 Premature ovarian insufficiency;HP:0008209 15136966;16508750;16464940 False 3 100;0;0 0.339 True ENSG00000130385 ENSG00000130385 HGNC:1068 BNC1 gene BNC1 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 16 MIM#618723 Premature ovarian insufficiency;HP:0008209 34794894;30010909;16624857;32962729;32894148;30689869;27301361 False 3 100;0;0 0.339 True ENSG00000169594 ENSG00000169594 HGNC:1081 BRCA2 gene BRCA2 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group D1 MIM#605724;premature ovarian failure" Premature ovarian insufficiency;HP:0008209 34794894;30207912;30865812 False 3 100;0;0 0.339 True ENSG00000139618 ENSG00000139618 HGNC:1101 C14orf39 gene C14orf39 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 18, MIM# 619203 Premature ovarian insufficiency;HP:0008209 PMID: 33508233;27796301 False 3 33;67;0 0.339 True ENSG00000179008 ENSG00000179008 HGNC:19849 C17orf53 gene C17orf53 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 11, MIM# 620897 Premature ovarian insufficiency;HP:0008209 34707299;31467087;38105698 False 3 50;50;0 0.339 True ENSG00000125319 ENSG00000125319 HGNC:28460 CCDC155 gene CCDC155 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian insufficiency;Infertility disorder, MONDO:0005047, CCDC155-related Premature ovarian insufficiency;HP:0008209 35674372;35708642;29790874;35587281 False 3 100;0;0 0.339 True ENSG00000161609 ENSG00000161609 HGNC:26520 CLPB gene CLPB Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271;syndromic premature ovarian insufficiency;neutropenia;cataracts;3-methylglutaconic aciduria;neurological dysfunction Premature ovarian insufficiency;HP:0008209 PMID: 36074910 False 3 100;0;0 0.339 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3 614129 Premature ovarian insufficiency;HP:0008209 23541340;27087618;27899912;25254289 False 3 100;0;0 0.339 True ENSG00000125656 ENSG00000125656 HGNC:2084 CYP17A1 gene CYP17A1 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase, 17,20-lyase deficiency 202110 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP19A1 gene CYP19A1 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Aromatase deficiency 613546 Premature ovarian insufficiency;HP:0008209 17164303 False 3 100;0;0 0.339 True ENSG00000137869 ENSG00000137869 HGNC:2594 DAP3 gene DAP3 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970, DAP3-related Premature ovarian insufficiency;HP:0008209 39701103 False 3 100;0;0 0.339 True ENSG00000132676 ENSG00000132676 HGNC:2673 DCAF17 gene DCAF17 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome MIM#241080 Premature ovarian insufficiency;HP:0008209 34590781;34794894;19026396 False 3 100;0;0 0.339 True ENSG00000115827 ENSG00000115827 HGNC:25784 EIF2B2 gene EIF2B2 Expert list;Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarioleukodystrophy 603896 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B4 gene EIF2B4 Expert list;Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarioleukodystrophy 603896 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert list;Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarioleukodystrophy 603896 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 True ENSG00000145191 ENSG00000145191 HGNC:3261 ESR1 gene ESR1 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Estrogen resistance, MIM# 615363 Premature ovarian insufficiency;HP:0008209 27754803;23841731;24152274 False 3 100;0;0 0.339 True ENSG00000091831 ENSG00000091831 HGNC:3467 FANCM gene FANCM Expert Review Green;Genetic Health QLD;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 15 MIM#618096 Premature ovarian insufficiency;HP:0008209 29231814;28837162;33036707;25010009 False 3 50;50;0 0.339 True ENSG00000187790 ENSG00000187790 HGNC:23168 FGF8 gene FGF8 Expert Review Green;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 3 100;0;0 0.339 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;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 3 100;0;0 0.339 True ENSG00000077782 ENSG00000077782 HGNC:3688 FIGLA gene FIGLA Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Premature ovarian failure, MIM#612310 Premature ovarian insufficiency;HP:0008209 18499083;25314148;29914564 False 3 100;0;0 0.339 True ENSG00000183733 ENSG00000183733 HGNC:24669 FOXL2 gene FOXL2 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100;Premature ovarian failure 3,608996 Premature ovarian insufficiency;HP:0008209 31077882;18642388;17089161 False 3 100;0;0 0.339 True ENSG00000183770 ENSG00000183770 HGNC:1092 FSHB gene FSHB Expert Review Green;NHS GMS Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 24 without anosmia 229070 Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000131808 ENSG00000131808 HGNC:3964 FSHR gene FSHR Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 1 233300;Ovarian response to FSH stimulation 276400 Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000170820 ENSG00000170820 HGNC:3969 GALT gene GALT Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia, 230400 Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000213930 ENSG00000213930 HGNC:4135 GDF9 gene GDF9 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 14 MIM#618014 Premature ovarian insufficiency;HP:0008209 29044499;8849725;33036707 False 3 100;0;0 0.339 True ENSG00000164404 ENSG00000164404 HGNC:4224 GGPS1 gene GGPS1 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518;Muscular dystrophy;deafness;ovarian insufficiency Premature ovarian insufficiency;HP:0008209 32403198 False 3 100;0;0 0.339 True ENSG00000152904 ENSG00000152904 HGNC:4249 GNAS gene GNAS Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNRH1 gene GNRH1 Expert Review Green;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 12 with or without anosmia 614841 Premature ovarian insufficiency;HP:0008209 32134721;19567835;19535795 False 3 100;0;0 0.339 True ENSG00000147437 ENSG00000147437 HGNC:4419 GNRHR gene GNRHR Expert Review Green;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 7 without anosmia 146110 Premature ovarian insufficiency;HP:0008209 28348023;9371856 False 3 100;0;0 0.339 True ENSG00000109163 ENSG00000109163 HGNC:4421 HARS2 gene HARS2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2 614926 Premature ovarian insufficiency;HP:0008209 31827252;31486067;31449985;27650058;21464306 False 3 100;0;0 0.339 True ENSG00000112855 ENSG00000112855 HGNC:4817 HFM1 gene HFM1 Expert Review Green;NHS GMS Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 9,615724 Premature ovarian insufficiency;HP:0008209 23555294;24597873;31279343 False 3 100;0;0 0.339 True ENSG00000162669 ENSG00000162669 HGNC:20193 HSD17B4 gene HSD17B4 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 1 233400 Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSF2BP gene HSF2BP Expert list;Expert Review Green Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure, OMIM#619245 Premature ovarian insufficiency;HP:0008209 32845237;35174157 False 3 50;0;50 0.339 True ENSG00000160207 ENSG00000160207 HGNC:5226 KHDRBS1 gene KHDRBS1 Expert Review Green;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 34794894;29808484;28938739;20881015 False 3 100;0;0 0.339 True ENSG00000121774 ENSG00000121774 HGNC:18116 KISS1R gene KISS1R Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000116014 ENSG00000116014 HGNC:4510 LARS2 gene LARS2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4 615300 Premature ovarian insufficiency;HP:0008209 29205794;32423379;30737337;26537577;23541342 False 3 100;0;0 0.339 True ENSG00000011376 ENSG00000011376 HGNC:17095 LHB gene LHB Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 True ENSG00000104826 ENSG00000104826 HGNC:6584 LHCGR gene LHCGR Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Luteinizing hormone resistance, female, (MIM#238320);Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320);Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320) Premature ovarian insufficiency;HP:0008209 11041448 False 3 100;0;0 0.339 True ENSG00000138039 ENSG00000138039 HGNC:6585 LHX8 gene LHX8 Expert Review Green;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 36029299;34794894;34095689;29329412;27603904 False 3 50;0;50 0.339 True ENSG00000162624 ENSG00000162624 HGNC:28838 LMNA gene LMNA Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000160789 ENSG00000160789 HGNC:6636 MCM8 gene MCM8 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Premature ovarian failure 10, MIM# 612885" Premature ovarian insufficiency;HP:0008209 32652893;25437880;25873734 False 3 100;0;0 0.339 True ENSG00000125885 ENSG00000125885 HGNC:16147 MCM9 gene MCM9 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 4, MIM#616185;Hereditary neoplastic syndrome MONDO:0015356 Premature ovarian insufficiency;HP:0008209 25480036;26771056;33538981;33095795;33095795;26806154;34556653;32841224;32613604;37378315 False 3 100;0;0 0.339 True ENSG00000111877 ENSG00000111877 HGNC:21484 MRPL49 gene MRPL49 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MRPL49-related Premature ovarian insufficiency;HP:0008209 39417135 False 3 100;0;0 0.339 True ENSG00000149792 ENSG00000149792 HGNC:1176 MRPS22 gene MRPS22 Expert Review Green;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Unknown Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 True ENSG00000175110 ENSG00000175110 HGNC:14508 MSH4 gene MSH4 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency;azoospermia Premature ovarian insufficiency;HP:0008209 34794894;10809667;12478991;28541421;32741963;33437391;34755185;33448284 False 3 100;0;0 0.339 True ENSG00000057468 ENSG00000057468 HGNC:7327 NBN gene NBN Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome MIM#251260 Premature ovarian insufficiency;HP:0008209 34794894;20444919 False 3 100;0;0 0.339 True ENSG00000104320 ENSG00000104320 HGNC:7652 NOBOX gene NOBOX Expert Review Green;Genetic Health QLD;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 Premature ovarian failure 5,611548 Premature ovarian insufficiency;HP:0008209 27836978;21837770;25514101;17701902;27798098;29067606 False 3 100;0;0 0.339 True ENSG00000106410 ENSG00000106410 HGNC:22448 NOTCH2 gene NOTCH2 Expert Review Green;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;32772338;32312275;30304577;28505269;28283672 False 3 100;0;0 0.339 True ENSG00000134250 ENSG00000134250 HGNC:7882 NR5A1 gene NR5A1 Expert Review Green;Genetic Health QLD;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 Spermatogenic failure 8,613957;46XY sex reversal 3,612965;Premature ovarian failure 7,612964 Premature ovarian insufficiency;HP:0008209 31513305 False 3 100;0;0 0.339 True ENSG00000136931 ENSG00000136931 HGNC:7983 NUP107 gene NUP107 Expert Review Green;Genetic Health QLD;Royal Melbourne Hospital;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 6 MIM#618078;primary amenorrhea;hypogonadotrophic hypogonadism Premature ovarian insufficiency;HP:0008209 32684853;26485283;29363275 False 3 100;0;0 0.339 True ENSG00000111581 ENSG00000111581 HGNC:29914 PMM2 gene PMM2 Expert Review Green;NHS GMS Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000140650 ENSG00000140650 HGNC:9115 POLG gene POLG Expert list;Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal recessive 1 258450;Progressive external ophthalmoplegia, autosomal dominant 1 157640 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green;Literature;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694 Premature ovarian insufficiency;HP:0008209 25339210 False 3 100;0;0 0.339 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Literature;Victorian Clinical Genetics Services Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 Premature ovarian insufficiency;HP:0008209 25339210;27512013;26113998 False 3 100;0;0 0.339 True ENSG00000013503 ENSG00000013503 HGNC:30348 POR gene POR Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571 Premature ovarian insufficiency;HP:0008209 32242900 False 3 100;0;0 0.339 True ENSG00000127948 ENSG00000127948 HGNC:9208 PRDM9 gene PRDM9 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited primary ovarian failure MONDO:0019852 Premature ovarian insufficiency;HP:0008209 PMID: 34257419 False 3 100;0;0 0.339 True ENSG00000164256 ENSG00000164256 HGNC:13994 PREPL gene PREPL Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome;premature ovarian failure Premature ovarian insufficiency;HP:0008209 34794894;28726805;30924587;32218803 False 3 100;0;0 0.339 True ENSG00000138078 ENSG00000138078 HGNC:30228 PROK2 gene PROK2 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000163421 ENSG00000163421 HGNC:18455 PROKR2 gene PROKR2 Expert Review Green;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 3 with or without anosmia, MIM# 244200 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 True ENSG00000101292 ENSG00000101292 HGNC:15836 PSMC3IP gene PSMC3IP Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 3, MIM# 614324 Premature ovarian insufficiency;HP:0008209 21963259;35352317;34878148;30406445;29240891 False 3 100;0;0 0.339 True ENSG00000131470 ENSG00000131470 HGNC:17928 RNF216 gene RNF216 Expert list;Expert Review Green Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840" Premature ovarian insufficiency;HP:0008209 25841028;23656588 False 3 100;0;0 0.339 True ENSG00000011275 ENSG00000011275 HGNC:21698 SEMA3A gene SEMA3A Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000075213 ENSG00000075213 HGNC:10723 SOHLH1 gene SOHLH1 Expert Review Green;Genetic Health QLD;NHS GMS Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Unknown Ovarian dysgenesis 5 MIM#617690 Premature ovarian insufficiency;HP:0008209 25774885;16690745;31042289 False 3 100;0;0 0.339 True ENSG00000165643 ENSG00000165643 HGNC:27845 STAG3 gene STAG3 Expert Review Green;Genetic Health QLD;NHS GMS Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 8 MIM#615723 Premature ovarian insufficiency;HP:0008209 24597867;26059840;31803224;31363903 False 3 100;0;0 0.339 True ENSG00000066923 ENSG00000066923 HGNC:11356 STAR gene STAR Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000147465 ENSG00000147465 HGNC:11359 SYCE1 gene SYCE1 Expert Review Green;Genetic Health QLD Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 12, MIM# 616947 Premature ovarian insufficiency;HP:0008209 25062452;32917591;32741963;32402064;31925770;31916078 False 3 100;0;0 0.339 True ENSG00000171772 ENSG00000171772 HGNC:28852 SYCP2L gene SYCP2L Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian failure 24, MIM# 620840 Premature ovarian insufficiency;HP:0008209 38521400;32303603 False 3 50;50;0 0.339 True ENSG00000153157 ENSG00000153157 HGNC:21537 TAC3 gene TAC3 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000169836 ENSG00000169836 HGNC:11528 TFAM gene TFAM Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome;primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss Premature ovarian insufficiency;HP:0008209 PMID: 34647195;32399598 False 3 100;0;0 0.339 True ENSG00000108064 ENSG00000108064 HGNC:11741 TP63 gene TP63 Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure-21, MIM#620311;Limb-mammary syndrome MIM#603543;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292 Premature ovarian insufficiency;HP:0008209 34794894;17609671;30924587;30689869;32067224 False 3 100;0;0 0.339 True ENSG00000073282 ENSG00000073282 HGNC:15979 TWNK gene TWNK Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 5, 616138 Premature ovarian insufficiency;HP:0008209 False 3 100;0;0 0.339 False ENSG00000107815 ENSG00000107815 HGNC:1160 WDR11 gene WDR11 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000120008 ENSG00000120008 HGNC:13831 WRN gene WRN Expert Review Green;Literature Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Werner syndrome MIM#277700 Premature ovarian insufficiency;HP:0008209 34794894;20301687 False 3 100;0;0 0.339 True ENSG00000165392 ENSG00000165392 HGNC:12791 WT1 gene WT1 Expert Review Green;Royal Melbourne Hospital Primary Ovarian Insufficiency_Premature Ovarian Failure Gonadal and sex development disorders Endocrine disorders Premature ovarian insufficiency;HP:0008209 False 3 0;0;0 0.339 False ENSG00000184937 ENSG00000184937 HGNC:12796 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 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 0.339 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 0.339 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 0.339 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 0.339 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 0.339 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 0.339 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 0.339 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 0.339 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 0.339 True ENSG00000139318 ENSG00000139318 HGNC:3072 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 0.339 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 0.339 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 0.339 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 0.339 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;50;50 0.339 True ENSG00000144730 ENSG00000144730 HGNC:17616 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 0.339 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 0.339 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 0.339 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 0.339 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 Premature ovarian failure Premature ovarian insufficiency;HP:0008209 21273125;33095795 False 1 0;0;100 0.339 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 0.339 True ENSG00000057657 ENSG00000057657 HGNC:9346 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 0.339 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 Premature ovarian failure Premature ovarian insufficiency;HP:0008209 24524832;19014927 False 1 0;0;100 0.339 True ENSG00000120669 ENSG00000120669 HGNC:26026 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 0.339 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 0.339 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 0.339 True ENSG00000024048 ENSG00000024048 HGNC:21289 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 0.339 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 0.339 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 0.339 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 0.339 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 0.339 True ENSG00000103310 ENSG00000103310 HGNC:13188 ZP3 gene ZP3 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 3, MIM# 617712 Premature ovarian insufficiency;HP:0008209 28886344;30810869 False 1 0;0;100 0.339 True ENSG00000188372 ENSG00000188372 HGNC:13189 FXPOI str FMR1 Expert Review Green;Expert list 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 1 MIM#311360 Premature ovarian insufficiency;HP:0008209 20301558 False 3 100;0;0 0.339 False ENSG00000102081 ENSG00000102081 HGNC:3775 X 146993569 146993628 147912051 147912110 CGG 44 55