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
AGK	gene	AGK	Expert Review Red;NHS GMS	Mitochondrial DNA maintenance disorder		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350						False	1	67;0;33	3.9	True		ENSG00000006530	ENSG00000006530	HGNC:21869													
ISCA2	gene	ISCA2	Expert Review Red;NHS GMS	Mitochondrial DNA maintenance disorder		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 4, 616370				29297947, 25539947		False	1	67;0;33	3.9	True		ENSG00000165898	ENSG00000165898	HGNC:19857													
SAMHD1	gene	SAMHD1	Expert Review Red;NHS GMS	Mitochondrial DNA maintenance disorder		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 5, 612952				21102625, 26342080		False	1	33;0;67	3.9	True		ENSG00000101347	ENSG00000101347	HGNC:15925