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
ATP5B	gene	ATP5B	Expert Review Amber;Literature	Dystonia - isolated/combined		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Inherited dystonia, MONDO:0044807, ATP5B-related			Dystonia;HP:0001332	36860166		False	2	50;50;0	1.37	True		ENSG00000110955	ENSG00000110955	HGNC:830													
CIZ1	gene	CIZ1	Expert Review Amber;Royal Melbourne Hospital	Dystonia - isolated/combined		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 23, 614860			Dystonia;HP:0001332	27163549;29154038;22447717		False	2	0;100;0	1.37	True		ENSG00000148337	ENSG00000148337	HGNC:16744													
COL6A3	gene	COL6A3	Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Dystonia - isolated/combined		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia 27, MIM#616411			Dystonia;HP:0001332	26004199;32037012;26872670;32037012		False	2	50;50;0	1.37	True		ENSG00000163359	ENSG00000163359	HGNC:2213