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 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