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 ANO10 gene ANO10 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728 25778941 False 2 40;40;20 4.27 False ENSG00000160746 ENSG00000160746 HGNC:25519 ATP5B gene ATP5B Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 20;80;0 4.27 True ENSG00000110955 ENSG00000110955 HGNC:830 ATP5C1 gene ATP5C1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000165629 ENSG00000165629 HGNC:833 ATP5G1 gene ATP5G1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000135390 ENSG00000135390 HGNC:842 ATP5I gene ATP5I Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000154723 ENSG00000154723 HGNC:847 CEP89 gene CEP89 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 23575228 False 2 67;33;0 4.27 True ENSG00000121289 ENSG00000121289 HGNC:25907 COA1 gene COA1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000106603 ENSG00000106603 HGNC:21868 COA3 gene COA3 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 25604084 False 2 67;33;0 4.27 True ENSG00000183978 ENSG00000183978 HGNC:24990 COA5 gene COA5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 21457908 False 2 67;33;0 4.27 True ENSG00000183513 ENSG00000183513 HGNC:33848 COQ5 gene COQ5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 29044765;36266294;37599337;41199775 False 2 33;67;0 4.27 True ENSG00000110871 ENSG00000110871 HGNC:28722 COX14 gene COX14 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 10, OMIM:619053 22243966 False 2 60;40;0 4.27 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes 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 4.27 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX18 gene COX18 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970;Charcot-Marie-Tooth disease, MONDO:0015626 37468577;40830826 False 2 67;33;0 4.27 True ENSG00000163626 ENSG00000163626 HGNC:26801 COX4I2 gene COX4I2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 19268275 False 2 67;33;0 4.27 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX5B gene COX5B Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000135940 ENSG00000135940 HGNC:2269 COX6C gene COX6C Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7C gene COX7C Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, 220110 False 2 67;33;0 4.27 False ENSG00000176340 ENSG00000176340 HGNC:2294 ERAL1 gene ERAL1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 False 2 50;50;0 4.27 False ENSG00000132591 ENSG00000132591 HGNC:3424 GATB gene GATB Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 30283131 False 2 67;0;33 4.27 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy disorder 30283131 False 2 67;33;0 4.27 False ENSG00000257218 ENSG00000257218 HGNC:25068 IDH3B gene IDH3B Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, 612572 18806796 False 2 67;33;0 4.27 True ENSG00000101365 ENSG00000101365 HGNC:5385 MRPL12 gene MRPL12 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Growth retardation and neurological deterioration 23603806 False 2 50;25;25 4.27 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPS14 gene MRPS14 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 50;50;0 4.27 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2, 610498 28749478;15505824 False 2 50;50;0 4.27 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS23 gene MRPS23 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hepatic disease 26741492 False 2 67;33;0 4.27 False ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS7 gene MRPS7 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 34, 617872 False 2 67;33;0 4.27 False ENSG00000125445 ENSG00000125445 HGNC:14499 NDUFA3 gene NDUFA3 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 2 33;67;0 4.27 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA5 gene NDUFA5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 50;50;0 4.27 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFA7 gene NDUFA7 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFAB1 gene NDUFAB1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFB1 gene NDUFB1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFB9 gene NDUFB9 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24, 618245 False 2 67;33;0 4.27 False ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC1 gene NDUFC1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS5 gene NDUFS5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000160194 ENSG00000160194 HGNC:7719 OXA1L gene OXA1L Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 30201738 False 2 33;67;0 4.27 False ENSG00000155463 ENSG00000155463 HGNC:8526 PDE12 gene PDE12 Expert Review Amber;Literature Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970 39567835 False 2 100;0;0 4.27 False ENSG00000174840 ENSG00000174840 HGNC:25386 PET117 gene PET117 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 2 33;67;0 4.27 False ENSG00000232838 ENSG00000232838 HGNC:40045 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 4.27 False ENSG00000110536 ENSG00000110536 HGNC:26965 SDHAF2 gene SDHAF2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 50;25;25 4.27 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 67;33;0 4.27 False ENSG00000143252 ENSG00000143252 HGNC:10682 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 29517768 False 2 0;100;0 4.27 False ENSG00000183032 ENSG00000183032 HGNC:14411 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 30452684 False 2 50;50;0 4.27 False ENSG00000177370 ENSG00000177370 HGNC:17317 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 28295037 False 2 50;50;0 4.27 False ENSG00000164983 ENSG00000164983 HGNC:25203 TXN2 gene TXN2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 29, 616811 False 2 67;33;0 4.27 False ENSG00000100348 ENSG00000100348 HGNC:17772 UQCC3 gene UQCC3 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex III deficiency, nuclear type 9, 616111 False 2 67;33;0 4.27 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 25;75;0 4.27 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRH gene UQCRH Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546 False 2 67;33;0 4.27 False ENSG00000164405 ENSG00000164405 HGNC:29594 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 False 2 50;50;0 4.27 False ENSG00000136758 ENSG00000136758 HGNC:12843