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
SRP54	gene	SRP54	Expert Review Amber;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	SCN8;618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT			Metaphyseal dysplasia;HP:0100255			False	2	0;100;0	0.5	True		ENSG00000100883	ENSG00000100883	HGNC:11301