Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS2 gene AARS2 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy, progressive, with ovarian failure 615889" 24808023 False 3 100;0;0 1.71 False ENSG00000124608 ENSG00000124608 HGNC:21022 BMP15 gene BMP15 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency 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;Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510;Ovarian Dysgenesis 15136966; 19486016 False 3 100;0;0 1.71 False ENSG00000130385 ENSG00000130385 HGNC:1068 C14orf39 gene C14orf39 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?Premature ovarian failure 18, OMIM:619203 33508233;27796301;34718620 False 3 0;100;0 1.71 False ENSG00000179008 ENSG00000179008 HGNC:19849 CLPP gene CLPP Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 3 614129" False 3 100;0;0 1.71 False ENSG00000125656 ENSG00000125656 HGNC:2084 CYP17A1 gene CYP17A1 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "17-alpha-hydroxylase, 17,20-lyase deficiency 202110" False 3 100;0;0 1.71 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP19A1 gene CYP19A1 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Aromatase deficiency, OMIM:613546 False 3 100;0;0 1.71 False ENSG00000137869 ENSG00000137869 HGNC:2594 EIF2B5 gene EIF2B5 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarioleukodystrophy 603896 12707859 False 3 100;0;0 1.71 False ENSG00000145191 ENSG00000145191 HGNC:3261 FANCM gene FANCM Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?Premature ovarian failure 15, OMIM:618096 30075111;29895858;28837162 False 3 100;0;0 1.71 False ENSG00000187790 ENSG00000187790 HGNC:23168 FOXL2 gene FOXL2 Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted BPES, premature ovarian failure;Premature ovarian failure 3,608996; Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100 21146150;20222838;12149404;19429596 False 3 100;0;0 1.71 False ENSG00000183770 ENSG00000183770 HGNC:1092 FSHB gene FSHB Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hypogonadotropic hypogonadism 24 without anosmia 229070" False 3 100;0;0 1.71 False ENSG00000131808 ENSG00000131808 HGNC:3964 FSHR gene FSHR Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Ovarian dysgenesis 1 233300;Ovarian response to FSH stimulation 276400" False 3 100;0;0 1.71 False ENSG00000170820 ENSG00000170820 HGNC:3969 GALT gene GALT Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia, 230400 90818 False 3 100;0;0 1.71 False ENSG00000213930 ENSG00000213930 HGNC:4135 GGPS1 gene GGPS1 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 32403198 False 3 100;0;0 1.71 False ENSG00000152904 ENSG00000152904 HGNC:4249 HARS2 gene HARS2 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, OMIM:614926 21464306;34406847;34338890 False 3 50;50;0 1.71 False ENSG00000112855 ENSG00000112855 HGNC:4817 HFM1 gene HFM1 Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal premature ovarian failure;Premature ovarian failure 9,615724 24597873;26679638 False 3 100;0;0 1.71 False ENSG00000162669 ENSG00000162669 HGNC:20193 HSD17B4 gene HSD17B4 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 1 233400" False 3 100;0;0 1.71 False ENSG00000133835 ENSG00000133835 HGNC:5213 LARS2 gene LARS2 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300 23541342 False 3 100;0;0 1.71 False ENSG00000011376 ENSG00000011376 HGNC:17095 MCM8 gene MCM8 Expert list;Expert Review Green;Other Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal premature ovarian failure 25873734;25437880;22771120 False 3 100;0;0 1.71 False ENSG00000125885 ENSG00000125885 HGNC:16147 MCM9 gene MCM9 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 4, 616185 25480036; 26771056; 2771120 False 3 100;0;0 1.71 False ENSG00000111877 ENSG00000111877 HGNC:21484 MSH4 gene MSH4 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency;primary ovarian failure, MONDO:0005387;non-obstructive azoospermia 28541421;10809667;33437391;33448284 False 3 0;0;0 1.71 False ENSG00000057468 ENSG00000057468 HGNC:7327 NOBOX gene NOBOX Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 5,611548;Premature Ovarian Failure 25514101 False 3 100;0;0 1.71 False ENSG00000106410 ENSG00000106410 HGNC:22448 NR5A1 gene NR5A1 Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted premature ovarian failure, spermatogenic failure, adenocotical insufficiecny, 46 XY sex reversal;46XY sex reversal 3,612965; Premature ovarian failure 7,612964; Spermatogenic failure 8,613957 19246354; 24067197; 23918653; 22951804 False 3 100;0;0 1.71 False ENSG00000136931 ENSG00000136931 HGNC:7983 PMM2 gene PMM2 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ia 212065" 7670249 False 3 100;0;0 1.71 False ENSG00000140650 ENSG00000140650 HGNC:9115 POLG gene POLG Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Progressive external ophthalmoplegia, autosomal dominant 1 157640; Progressive external ophthalmoplegia, autosomal recessive 1 258450" 20301791 False 3 100;0;0 1.71 False ENSG00000140521 ENSG00000140521 HGNC:9179 SOHLH1 gene SOHLH1 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency 25774885;25527234 False 3 100;0;0 1.71 False ENSG00000165643 ENSG00000165643 HGNC:27845 STAG3 gene STAG3 Expert list;Expert Review Green Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal premature ovarian failure 24597867; 26059840 False 3 100;0;0 1.71 False ENSG00000066923 ENSG00000066923 HGNC:11356 SYCE1 gene SYCE1 Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?Premature ovarian failure 12, OMIM:616947 25062452;34718620;32917591 False 3 0;0;0 1.71 False ENSG00000171772 ENSG00000171772 HGNC:28852 TWNK gene TWNK Expert Review Green;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 5, OMIM:616138 25355836 False 3 100;0;0 1.71 False ENSG00000107815 ENSG00000107815 HGNC:1160 BMPR1B gene BMPR1B Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature Ovarian Insufficiency 28505269;15805157 False 2 0;100;0 1.71 False ENSG00000138696 ENSG00000138696 HGNC:1077 BUB1B gene BUB1B Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 32716490 False 2 0;100;0 1.71 False ENSG00000156970 ENSG00000156970 HGNC:1149 DACH2 gene DACH2 Expert Review Amber;Literature Primary ovarian insufficiency 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 insufficiency 15459172;10894934 False 2 0;100;0 1.71 False ENSG00000126733 ENSG00000126733 HGNC:16814 EIF2B4 gene EIF2B4 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ovarioleukodystrophy 603896 12707859 False 2 0;0;0 1.71 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF4ENIF1 gene EIF4ENIF1 Expert list;Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted premature ovarian failure;Primary ovarian insufficiency 23902945;31810472;33095795 False 2 0;100;0 1.71 False ENSG00000184708 ENSG00000184708 HGNC:16687 FIGLA gene FIGLA Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure,612310;Premature Ovarian Failure 18499083 False 2 0;100;0 1.71 False ENSG00000183733 ENSG00000183733 HGNC:24669 GDF9 gene GDF9 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency 16278619; 17156781 False 2 0;0;0 1.71 False ENSG00000164404 ENSG00000164404 HGNC:4224 KHDRBS1 gene KHDRBS1 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Premature ovarian failure 34794894;29808484;28938739;20881015 False 2 100;0;0 1.71 False ENSG00000121774 ENSG00000121774 HGNC:18116 LMNA gene LMNA Expert Review Amber;Other Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 19283854 False 2 0;100;0 1.71 False ENSG00000160789 ENSG00000160789 HGNC:6636 MSH5 gene MSH5 Expert Review Amber;Other Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?Premature ovarian failure 13, OMIM:617442 28175301;9916805;24970489 False 2 0;100;0 1.71 False ENSG00000204410 ENSG00000204410 HGNC:7328 NANOS3 gene NANOS3 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency 24091668;25054146 False 2 0;100;0 1.71 False ENSG00000187556 ENSG00000187556 HGNC:22048 NOG gene NOG Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency 15066478 False 2 0;0;0 1.71 False ENSG00000183691 ENSG00000183691 HGNC:7866 NUP107 gene NUP107 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Gonadal dysgenesis 26485283 False 2 0;0;0 1.71 False ENSG00000111581 ENSG00000111581 HGNC:29914 PGRMC1 gene PGRMC1 Expert Review Amber;Literature Primary ovarian insufficiency 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 insufficiency 18782852; 25246111 False 2 0;100;0 1.71 False ENSG00000101856 ENSG00000101856 HGNC:16090 POF1B gene POF1B Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females premature ovarian failure;Premature ovarian failure 2B,300604;Premature Ovarian Failure 2B 16773570;26243799 False 2 0;100;0 1.71 False ENSG00000124429 ENSG00000124429 HGNC:13711 POLR2C gene POLR2C Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency 34794894;29367954 False 2 0;100;0 1.71 False ENSG00000102978 ENSG00000102978 HGNC:9189 POLR3H gene POLR3H Expert Review;Expert Review Amber Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary ovarian insufficiency 34794894;30830215 False 2 0;100;0 1.71 False ENSG00000100413 ENSG00000100413 HGNC:30349 POU5F1 gene POU5F1 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency 21273125 False 2 0;0;0 1.71 False ENSG00000204531 ENSG00000204531 HGNC:9221 PSMC3IP gene PSMC3IP Expert list;Expert Review Amber;Other;Radboud University Medical Center, Nijmegen Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal premature ovarian failure;Ovarian dysgenesis 3,614324 21963259;24481226 False 2 0;100;0 1.71 False ENSG00000131470 ENSG00000131470 HGNC:17928 RCBTB1 gene RCBTB1 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with or without extraocular anomalies 617175 27486781 False 2 0;0;0 1.71 False ENSG00000136144 ENSG00000136144 HGNC:18243 SGO2 gene SGO2 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal PERRAULT SYNDROME 27629923 False 2 0;100;0 1.71 False ENSG00000163535 ENSG00000163535 HGNC:30812 SOHLH2 gene SOHLH2 Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ovarian insufficiency 24524832 False 2 0;0;0 1.71 False ENSG00000120669 ENSG00000120669 HGNC:26026 SYCP2L gene SYCP2L Expert Review Amber;Literature Primary ovarian insufficiency Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Premature ovarian insufficiency 32303603 False 2 0;100;0 1.71 False ENSG00000153157 ENSG00000153157 HGNC:21537