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
FMR1	gene	FMR1	Eligibility statement prior genetic testing;Other;UKGTN	Early onset familial premature ovarian failure			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; Fragile X tremor/ataxia syndrome; Fragile X syndrome; Fragile X Mental Retardation Syndrome						False	1	0;0;0	0.7	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													
FOXL2	gene	FOXL2	Expert Review	Early onset familial premature ovarian failure			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	BPES (MIM 110100)				3141218; 11175783; 26100530		False	1	0;0;0	0.7	False		ENSG00000183770	ENSG00000183770	HGNC:1092													
STAG3	gene	STAG3	Expert Review	Early onset familial premature ovarian failure			BIALLELIC, autosomal or pseudoautosomal	PRIMARY OVARIAN FAILURE				26059840; 24597867 		False	1	0;0;0	0.7	False		ENSG00000066923	ENSG00000066923	HGNC:11356													
