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;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728;autosomal recessive spinocerebellar ataxia 10, MONDO:0013392 25778941 False 2 25;50;25 9.54 True ENSG00000160746 ENSG00000160746 HGNC:25519 ATP5B gene ATP5B Expert Review Amber;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 0;100;0 9.54 True ENSG00000110955 ENSG00000110955 HGNC:830 COASY gene COASY Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, OMIM:615643;neurodegeneration with brain iron accumulation 6, MONDO:0014290;Pontocerebellar hypoplasia, type 12, OMIM:618266;pontocerebellar hypoplasia, type 12, MONDO:0032643 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 2 100;0;0 9.54 False ENSG00000068120 ENSG00000068120 HGNC:29932 COQ5 gene COQ5 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 29044765;36266294;37599337;41199775 False 2 33;33;33 9.54 False ENSG00000110871 ENSG00000110871 HGNC:28722 COX14 gene COX14 Expert;Expert list;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 10, OMIM:619053 22243966 False 2 40;60;0 9.54 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355;Hypertrophic cardiomyopathy;Encephalopathy;Severe fatal lactic acidosis 33169484 False 2 0;100;0 9.54 False ENSG00000133983 ENSG00000133983 HGNC:20213 CRAT gene CRAT Expert list;Expert Review Amber Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Neurodegeneration with brain iron accumulation 8, OMIM:617917;Leigh syndrome, MONDO:0009723 29395073;29903433;31448845 False 2 0;67;33 9.54 False ENSG00000095321 ENSG00000095321 HGNC:2342 DCC gene DCC Expert Review Amber;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal "Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542" 28250456 False 2 0;100;0 9.54 False ENSG00000187323 ENSG00000187323 HGNC:2701 ETFA gene ETFA Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 1882842;12815589;25929793;27604308 False 2 100;0;0 9.54 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308;30847515;32550677;27081516 False 2 100;0;0 9.54 False ENSG00000105379 ENSG00000105379 HGNC:3482 IDH1 gene IDH1 Expert Review Amber;Literature;NHS GMS Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875;metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941;Maffucci syndrome, OMIM:614569;Maffucci syndrome, MONDO:0013808;Ollier disease/ Dyschondroplasia, OMIM:166000;Ollier disease, MONDO:0008145 24049096;22025298;22057234;22057236;33340416 False 2 33;67;0 9.54 False ENSG00000138413 ENSG00000138413 HGNC:5382 IDH3B gene IDH3B Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, 612572 18806796 False 2 0;100;0 9.54 False ENSG00000101365 ENSG00000101365 HGNC:5385 MRPS14 gene MRPS14 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 0;100;0 9.54 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert;Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 2, 610498 28749478;15505824 False 2 50;50;0 9.54 False ENSG00000182180 ENSG00000182180 HGNC:14048 MT-RNR2 gene MT-RNR2 Expert Review Amber;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 2 50;50;0 9.54 False ENSG00000210082 ENSG00000210082 HGNC:7471 NDUFA5 gene NDUFA5 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial complex I deficiency, MONDO:0100133 24154540;41859003;41916321 False 2 50;50;0 9.54 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFB9 gene NDUFB9 Expert;Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;?Mitochondrial complex I deficiency, 252010 22200994 False 2 100;0;0 9.54 False ENSG00000147684 ENSG00000147684 HGNC:7704 OGDH gene OGDH Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740;oxoglutaricaciduria, MONDO:0008759 32383294;36520152 False 2 67;33;0 9.54 False ENSG00000105953 ENSG00000105953 HGNC:8124 OXA1L gene OXA1L Expert Review Amber;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 16435202;30201738 False 2 0;100;0 9.54 False ENSG00000155463 ENSG00000155463 HGNC:8526 PCK2 gene PCK2 Expert Review Amber;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal PEPCK deficiency, mitochondrial, OMIM:261650;Abnormal gait;peripheral neuropathy 36845668 False 2 0;100;0 9.54 False ENSG00000100889 ENSG00000100889 HGNC:8725 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 9.54 False ENSG00000110536 ENSG00000110536 HGNC:26965 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 29517768 False 2 0;100;0 9.54 False ENSG00000183032 ENSG00000183032 HGNC:14411 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 30452684 False 2 0;100;0 9.54 False ENSG00000177370 ENSG00000177370 HGNC:17317 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 28295037 False 2 0;100;0 9.54 False ENSG00000164983 ENSG00000164983 HGNC:25203 TOMM70 gene TOMM70 Expert Review Amber;Literature Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe anaemia, lactic acidosis;developmental delay;white matter abnormalities 31907385;32356556 False 2 0;100;0 9.54 False ENSG00000154174 ENSG00000154174 HGNC:11985 UQCC3 gene UQCC3 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;?Mitochondrial complex III deficiency, nuclear type, 616111 25008109;28804536 False 2 100;0;0 9.54 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 9.54 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRQ gene UQCRQ Emory Genetics Laboratory;Expert;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546 False 2 100;0;0 9.54 False ENSG00000164405 ENSG00000164405 HGNC:29594 XPNPEP3 gene XPNPEP3 Expert list;Expert Review Amber Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 2 25;50;25 9.54 True ENSG00000196236 ENSG00000196236 HGNC:28052 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 False 2 0;100;0 9.54 False ENSG00000136758 ENSG00000136758 HGNC:12843