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 APOPT1 gene APOPT1 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 False 3 100;0;0 4.14 False ENSG00000256053 ENSG00000256053 HGNC:20492 COA6 gene COA6 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 22277967;24549041;25959673;25339201 False 3 100;0;0 4.14 True ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 29718187;27683825 False 3 100;0;0 4.14 True ENSG00000162377 ENSG00000162377 HGNC:25716 COX10 gene COX10 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 3 100;0;0 4.14 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 36030551;38068960 False 3 75;25;0 4.14 True ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 3 100;0;0 4.14 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 4.14 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX4I1 gene COX4I1 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060 28766551;31290619 False 3 33;67;0 4.14 True ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 28247525;35246835 False 3 60;40;0 4.14 True ENSG00000178741 ENSG00000178741 HGNC:2267 COX6A1 gene COX6A1 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 3 100;0;0 4.14 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6A2 gene COX6A2 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 23460811;31155743;32744742 False 3 75;25;0 4.14 True ENSG00000156885 ENSG00000156885 HGNC:2279 COX6B1 gene COX6B1 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 3 100;0;0 4.14 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 2, 300887 False 3 100;0;0 4.14 False ENSG00000131174 ENSG00000131174 HGNC:2291 LRPPRC gene LRPPRC Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111 False 3 100;0;0 4.14 False ENSG00000138095 ENSG00000138095 HGNC:15714 NDUFA4 gene NDUFA4 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065;mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 23746447, 29636225 False 3 75;25;0 4.14 False ENSG00000189043 ENSG00000189043 HGNC:7687 PET100 gene PET100 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 4.14 False ENSG00000229833 ENSG00000229833 HGNC:40038 SCO1 gene SCO1 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 False 3 100;0;0 4.14 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 False 3 100;0;0 4.14 False ENSG00000130489 ENSG00000130489 HGNC:10604 SQOR gene SQOR Expert Review Green;Literature Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Sulfide:quinone oxidoreductase deficiency, OMIM:619221 32160317 False 3 50;50;0 4.14 False ENSG00000137767 ENSG00000137767 HGNC:20390 SURF1 gene SURF1 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K, 616684;Leigh syndrome, due to COX IV deficiency, 256000 False 3 100;0;0 4.14 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert Review Green;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 4.14 False ENSG00000136463 ENSG00000136463 HGNC:24316 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 COA4 gene COA4 Expert Review Red;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.14 True ENSG00000181924 ENSG00000181924 HGNC:24604 COX17 gene COX17 Expert Review Red;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.14 True ENSG00000138495 ENSG00000138495 HGNC:2264 COX19 gene COX19 Expert Review Red;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.14 True ENSG00000240230 ENSG00000240230 HGNC:28074 COX6B2 gene COX6B2 Expert Review Red;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.14 True ENSG00000160471 ENSG00000160471 HGNC:24380 FASTKD2 gene FASTKD2 Expert Review Red;NHS GMS Mitochondrial disorder with complex IV deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 28499982;31944455 False 1 60;0;40 4.14 False ENSG00000118246 ENSG00000118246 HGNC:29160