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
CEP89	gene	CEP89	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	No OMIM phenotype				23575228		False	2	67;33;0	4.14	True		ENSG00000121289	ENSG00000121289	HGNC:25907													
COA1	gene	COA1	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	4.14	True		ENSG00000106603	ENSG00000106603	HGNC:21868													
COA3	gene	COA3	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	No OMIM phenotype				25604084		False	2	67;33;0	4.14	True		ENSG00000183978	ENSG00000183978	HGNC:24990													
COA5	gene	COA5	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500				21457908		False	2	67;33;0	4.14	True		ENSG00000183513	ENSG00000183513	HGNC:33848													
COX14	gene	COX14	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex IV deficiency, nuclear type 10, OMIM:619053				22243966		False	2	60;40;0	4.14	False		ENSG00000178449	ENSG00000178449	HGNC:28216													
COX16	gene	COX16	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355;Hypertrophic cardiomyopathy;Encephalopathy;Severe fatal lactic acidosis				33169484		False	2	33;67;0	4.14	True		ENSG00000133983	ENSG00000133983	HGNC:20213													
COX18	gene	COX18	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	mitochondrial disease, MONDO:0044970;Charcot-Marie-Tooth disease, MONDO:0015626				37468577;40830826		False	2	67;33;0	4.14	True		ENSG00000163626	ENSG00000163626	HGNC:26801													
COX4I2	gene	COX4I2	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714				19268275		False	2	67;33;0	4.14	True		ENSG00000131055	ENSG00000131055	HGNC:16232													
COX5B	gene	COX5B	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	4.14	True		ENSG00000135940	ENSG00000135940	HGNC:2269													
COX6C	gene	COX6C	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	4.14	True		ENSG00000164919	ENSG00000164919	HGNC:2285													
COX7A1	gene	COX7A1	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	4.14	True		ENSG00000161281	ENSG00000161281	HGNC:2287													
COX7C	gene	COX7C	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype				30634555		False	2	33;67;0	4.14	True		ENSG00000127184	ENSG00000127184	HGNC:2292													
COX8A	gene	COX8A	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex IV deficiency, 220110				26685157		False	2	67;33;0	4.14	True		ENSG00000176340	ENSG00000176340	HGNC:2294													
OXA1L	gene	OXA1L	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	No OMIM phenotype				30201738		False	2	50;50;0	4.14	True		ENSG00000155463	ENSG00000155463	HGNC:8526													
PET117	gene	PET117	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063				28386624		False	2	100;0;0	4.14	True		ENSG00000232838	ENSG00000232838	HGNC:40045