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
DHCR7	gene	DHCR7	Expert Review Green;NHS GMS	Smith-Lemli-Opitz syndrome		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome, OMIM:270400;Smith-Lemli-Opitz syndrome, MONDO:0010035						False	3	100;0;0	1.3	False		ENSG00000172893	ENSG00000172893	HGNC:2860