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 ATP5F1 gene ATP5F1 Expert list;Expert Review Red Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36239646 False 1 0;0;100 0.969 True ENSG00000116459 ENSG00000116459 HGNC:840 ATPAF2 gene ATPAF2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 1 0;0;100 0.969 False ENSG00000171953 ENSG00000171953 HGNC:18802 COA3 gene COA3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25604084 False 1 0;0;100 0.969 True ENSG00000183978 ENSG00000183978 HGNC:24990 COA5 gene COA5 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 21457908 False 1 0;0;100 0.969 True ENSG00000183513 ENSG00000183513 HGNC:33848 COQ5 gene COQ5 Expert list;Expert Review Red Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29044765 False 1 0;0;100 0.969 True ENSG00000110871 ENSG00000110871 HGNC:28722 COX18 gene COX18 Expert Review Red;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX18-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID:37468577 False 1 0;0;100 0.969 True ENSG00000163626 ENSG00000163626 HGNC:26801 COX4I2 gene COX4I2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 19268275;22730437 False 1 0;0;100 0.969 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX8A gene COX8A Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26685157 False 1 0;0;100 0.969 True ENSG00000176340 ENSG00000176340 HGNC:2294 ERCC6L2 gene ERCC6L2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, MIM#615715 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29987015;24507776 False 1 0;100;0 0.969 True ENSG00000182150 ENSG00000182150 HGNC:26922 GATB gene GATB Expert Review Red;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30283131 False 1 0;0;100 0.969 True ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Red;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30283131 False 1 0;0;100 0.969 True ENSG00000257218 ENSG00000257218 HGNC:25068 GMPR gene GMPR Expert Review Red;Literature Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted progressive external ophthalmoplegia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31600844 False 1 0;100;0 0.969 True ENSG00000137198 ENSG00000137198 HGNC:4376 KIF5A gene KIF5A Expert Review Green;Expert Review Red;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus, intractable, neonatal MIM#617235 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27463701;27414745 False 1 50;50;0 0.969 True Other ENSG00000155980 ENSG00000155980 HGNC:6323 ME2 gene ME2 Expert Review Red;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal inborn disorder of energy metabolism MONDO:0019243 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 39401966 False 1 0;0;100 0.969 True ENSG00000082212 ENSG00000082212 HGNC:6984 MICU2 gene MICU2 Expert Review Red;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cognitive impairment;spasticity;white matter involvement Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29053821 False 1 0;0;100 0.969 True ENSG00000165487 ENSG00000165487 HGNC:31830 MIEF1 gene MIEF1 Expert Review Red;Literature Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 14 (MIM#620550) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33632269 False 1 0;100;0 0.969 True ENSG00000100335 ENSG00000100335 HGNC:25979 MIEF2 gene MIEF2 Expert list;Expert Review Red Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 49, MIM# 619024;Progressive muscle weakness;Exercise intolerance;Ragged red and COX negative fibres;Complex I and IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29361167 False 1 0;0;100 0.969 True ENSG00000177427 ENSG00000177427 HGNC:17920 MRPL12 gene MRPL12 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation;neurological deterioration;mitochondrial translation deficiency;Combined oxidative phosphorylation deficiency 45, MIM#618951 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23603806 False 1 0;0;100 0.969 True ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL42 gene MRPL42 Expert Review Red;Other Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 1 0;0;100 0.969 True ENSG00000198015 ENSG00000198015 HGNC:14493 MRPS25 gene MRPS25 Expert list;Expert Review Red Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 50, MIM# 619025;Dyskinetic cerebral palsy;Mitochondrial myopathy;Partial agenesis of the corpus callosum" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31039582 False 1 0;0;100 0.969 True ENSG00000131368 ENSG00000131368 HGNC:14511 MRPS28 gene MRPS28 Expert list;Expert Review Red Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intrauterine growth retardation;developmental delay;dysmorphism;Combined oxidative phosphorylation deficiency 47, MIM618958 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30566640 False 1 0;0;100 0.969 True ENSG00000147586 ENSG00000147586 HGNC:14513 MT-RNR2 gene MT-RNR2 Expert Review;Expert Review Red;Literature Mitochondrial disease Metabolic disorders MITOCHONDRIAL Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29233888 False 1 0;0;100 0.969 True ENSG00000210082 ENSG00000210082 HGNC:7471 MT-TT gene MT-TT Expert list;Expert Review Red Mitochondrial disease Metabolic disorders MITOCHONDRIAL Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 1 0;0;100 0.969 True ENSG00000210195 ENSG00000210195 HGNC:7499 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pathologic myopia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28837730 False 1 0;0;100 0.969 True ENSG00000003509 ENSG00000003509 HGNC:28816 NME3 gene NME3 Expert list;Expert Review Red Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia;Neurodegeneration;Abnormal mitochondrial dynamics Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30587587 False 1 0;0;100 0.969 True ENSG00000103024 ENSG00000103024 HGNC:7851 PET117 gene PET117 Expert Review Red;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063;Developmental delay Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28386624 False 1 0;0;100 0.969 True ENSG00000232838 ENSG00000232838 HGNC:40045 PNPLA4 gene PNPLA4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26741492 False 1 0;0;100 0.969 True ENSG00000006757 ENSG00000006757 HGNC:24887 PTCD1 gene PTCD1 Expert Review Red;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25058219 False 1 0;0;100 0.969 True ENSG00000106246 ENSG00000106246 HGNC:22198 PYROXD2 gene PYROXD2 Expert Review Red;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 35055180 False 1 0;0;100 0.969 True ENSG00000119943 ENSG00000119943 HGNC:23517 SDHAF2 gene SDHAF2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Paragangliomas 2, MIM# 601650 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 1 0;0;100 0.969 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Red Mitochondrial disease Metabolic disorders Unknown Mitochondrial disease MONDO:0044970 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31469588;29884839 False 1 0;0;0 0.969 False ENSG00000143252 ENSG00000143252 HGNC:10682 SLIRP gene SLIRP Expert Review Red;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy with complex I and IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34426662 False 1 0;0;0 0.969 True ENSG00000119705 ENSG00000119705 HGNC:20495 XPNPEP3 gene XPNPEP3 Expert Review Red;Literature;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 MIM#613159 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 20179356;25778941 False 1 0;50;50 0.969 True ENSG00000196236 ENSG00000196236 HGNC:28052