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
ATM	gene	ATM	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia, OMIM:208900				2005780;20301790		False	1	0;0;100	1.71	True		ENSG00000149311	ENSG00000149311	HGNC:795													
BLM	gene	BLM	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Bloom syndrome, OMIM:210900				20301572		False	1	0;0;0	1.71	False		ENSG00000197299	ENSG00000197299	HGNC:1058													
DIAPH2	gene	DIAPH2	Expert Review Red;Radboud University Medical Center, Nijmegen	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders		?Premature ovarian failure 2A, OMIM:300511				9497258;30689869;26175800;11129329		False	1	0;50;50	1.71	False	Other - please provide details in the comments	ENSG00000147202	ENSG00000147202	HGNC:2877													
EIF2B2	gene	EIF2B2	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Ovarioleukodystrophy 603896				12707859		False	1	0;0;100	1.71	False		ENSG00000119718	ENSG00000119718	HGNC:3258													
ERAL1	gene	ERAL1	Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	"Perrault syndrome 6	617565"				28449065 		False	1	0;0;100	1.71	False		ENSG00000132591	ENSG00000132591	HGNC:3424													
FANCA	gene	FANCA	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group A 227650				20301575		False	1	0;0;100	1.71	False		ENSG00000187741	ENSG00000187741	HGNC:3582													
FANCC	gene	FANCC	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group C 227645				20301575		False	1	0;0;100	1.71	False		ENSG00000158169	ENSG00000158169	HGNC:3584													
FANCG	gene	FANCG	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group G 614082				20301575		False	1	0;0;100	1.71	False		ENSG00000221829	ENSG00000221829	HGNC:3588													
FMR1	gene	FMR1	Eligibility statement exclusion criteria;Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	Other	Premature ovarian failure 1, OMIM:311360				20228389;20301558		False	1	50;0;50	1.71	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000102081	ENSG00000102081	HGNC:3775													
FOXO4	gene	FOXO4	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	premature ovarian insufficiency				 22285440		False	1	0;0;100	1.71	False		ENSG00000184481	ENSG00000184481	HGNC:7139													
HSF2BP	gene	HSF2BP	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Premature ovarian failure 19, OMIM:619245				32845237		False	1	0;0;100	1.71	False		ENSG00000160207	ENSG00000160207	HGNC:5226													
NBN	gene	NBN	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Nijmegen breakage syndrome 251260				20301355		False	1	0;0;100	1.71	True		ENSG00000104320	ENSG00000104320	HGNC:7652													
RECQL4	gene	RECQL4	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Rothmund-Thomson syndrome 268400				11471165		False	1	0;0;100	1.71	True		ENSG00000160957	ENSG00000160957	HGNC:9949													
WRN	gene	WRN	Expert Review Red;Literature	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Werner syndrome 277700				20301687		False	1	0;0;100	1.71	False		ENSG00000165392	ENSG00000165392	HGNC:12791													
YTHDC2	gene	YTHDC2	Expert Review Red;Literature;Research	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Premature ovarian insufficiency;female infertility;absent puberty;primary amenorrhea				29033321;29360036;35138268		False	1	0;0;100	1.71	False		ENSG00000047188	ENSG00000047188	HGNC:24721													
ZSWIM7	gene	ZSWIM7	Expert Review Red;Literature;Research	Primary ovarian insufficiency	Gonadal and sex development disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ovarian insufficiency;absent puberty;primary amenorrhea				34402903		False	1	0;0;100	1.71	False	Other	ENSG00000214941	ENSG00000214941	HGNC:26993