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
SDHA	gene	SDHA	Expert Review Green;NHS GMS	Mitochondrial disorder with complex II deficiency		Mitochondrial	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011;Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259;Cardiomyopathy, dilated, 1GG, OMIM:613642				10976639;27683074;33471299		False	3	100;0;0	2.11	False		ENSG00000073578	ENSG00000073578	HGNC:10680													
SDHAF1	gene	SDHAF1	Expert Review Green;NHS GMS	Mitochondrial disorder with complex II deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial respiratory chain complex II deficiency, 252011				19465911;22995659;26642834		False	3	100;0;0	2.11	True		ENSG00000205138	ENSG00000205138	HGNC:33867													
SDHB	gene	SDHB	Expert Review Green;NHS GMS	Mitochondrial disorder with complex II deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224				22972948;26925370;27604842;32124427		False	3	80;20;0	2.11	True		ENSG00000117118	ENSG00000117118	HGNC:10681													
SDHD	gene	SDHD	Expert Review Green;NHS GMS	Mitochondrial disorder with complex II deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial respiratory chain complex II deficiency, 252011				24367056;26008905		False	3	100;0;0	2.11	True		ENSG00000204370	ENSG00000204370	HGNC:10683													
