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
BCS1L	gene	BCS1L	Expert Review Green;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000						False	3	100;0;0	2.7	False		ENSG00000074582	ENSG00000074582	HGNC:1020													
CYC1	gene	CYC1	Expert Review Green;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 6, 615453						False	3	100;0;0	2.7	False		ENSG00000179091	ENSG00000179091	HGNC:2579													
LYRM7	gene	LYRM7	Expert Review Green;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 8, 615838				29353736		False	3	100;0;0	2.7	False		ENSG00000186687	ENSG00000186687	HGNC:28072													
TTC19	gene	TTC19	Expert Review Green;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 2, 615157						False	3	100;0;0	2.7	False		ENSG00000011295	ENSG00000011295	HGNC:26006													
UQCC2	gene	UQCC2	Expert Review Green;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824				28804536;24385928		False	3	75;25;0	2.7	True		ENSG00000137288	ENSG00000137288	HGNC:21237													
UQCRB	gene	UQCRB	Expert Review Green;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158				12709789;25446085;28604960		False	3	100;0;0	2.7	True		ENSG00000156467	ENSG00000156467	HGNC:12582													
UQCRC2	gene	UQCRC2	Expert Review Green;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160				23281071;28275242;33865955		False	3	67;33;0	2.7	True		ENSG00000140740	ENSG00000140740	HGNC:12586													
UQCRFS1	gene	UQCRFS1	Expert Review Green;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775				31883641		False	3	60;40;0	2.7	True		ENSG00000169021	ENSG00000169021	HGNC:12587													
UQCC3	gene	UQCC3	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex III deficiency, nuclear type 9, 616111				25008109		False	2	67;33;0	2.7	True		ENSG00000204922	ENSG00000204922	HGNC:34399													
UQCRC1	gene	UQCRC1	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Parkinsonism with polyneuropathy, OMIM:619279				30788857;33141179;33779694;33248804		False	2	25;75;0	2.7	True		ENSG00000010256	ENSG00000010256	HGNC:12585													
UQCRH	gene	UQCRH	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	No OMIM phenotype						False	2	33;67;0	2.7	True		ENSG00000173660	ENSG00000173660	HGNC:12590													
UQCRQ	gene	UQCRQ	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 4, 615159				18439546		False	2	67;33;0	2.7	True		ENSG00000164405	ENSG00000164405	HGNC:29594													
UQCC1	gene	UQCC1	Expert Review Red;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	1	50;50;0	2.7	True		ENSG00000101019	ENSG00000101019	HGNC:15891													
UQCR10	gene	UQCR10	Expert Review Red;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	1	50;50;0	2.7	True		ENSG00000184076	ENSG00000184076	HGNC:30863													
UQCR11	gene	UQCR11	Expert Review Red;NHS GMS	Mitochondrial disorder with complex III deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	1	50;50;0	2.7	True		ENSG00000127540	ENSG00000127540	HGNC:30862