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 ABAT gene ABAT Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 25738457 False 3 75;0;25 3.9 False ENSG00000183044 ENSG00000183044 HGNC:23 AFG3L2 gene AFG3L2 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 12, OMIM:618977;Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 25420100 False 3 100;0;0 3.9 False ENSG00000141385 ENSG00000141385 HGNC:315 DGUOK gene DGUOK Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 False 3 100;0;0 3.9 False ENSG00000114956 ENSG00000114956 HGNC:2858 DNA2 gene DNA2 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 23352259 False 3 100;0;0 3.9 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNM2 gene DNM2 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, dominant intermediate B, 606482;Charcot-Marie-Tooth disease, axonal type 2M, 606482;Centronuclear myopathy 1, 160150 25492887 False 3 100;0;0 3.9 False ENSG00000079805 ENSG00000079805 HGNC:2974 FBXL4 gene FBXL4 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) 25868664 False 3 100;0;0 3.9 False ENSG00000112234 ENSG00000112234 HGNC:13601 LIG3 gene LIG3 Expert Review Green;Literature;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal gut dysmotility;spasticity;ataxia;repetitive behaviours;neurogenic bladder;macular degeneration;leukoencephalopathy;cerebellar atrophy;mitochondrial DNA depletion 33855352 False 3 100;0;0 3.9 False ENSG00000005156 ENSG00000005156 HGNC:6600 MFN2 gene MFN2 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 22556188;22189565 False 3 100;0;0 3.9 False ENSG00000116688 ENSG00000116688 HGNC:16877 MGME1 gene MGME1 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 11, 615084 23313956 False 3 100;0;0 3.9 False ENSG00000125871 ENSG00000125871 HGNC:16205 MPV17 gene MPV17 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 False 3 100;0;0 3.9 False ENSG00000115204 ENSG00000115204 HGNC:7224 OPA1 gene OPA1 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250;Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896;Behr syndrome, OMIM:210000 False 3 100;0;0 3.9 False ENSG00000198836 ENSG00000198836 HGNC:8140 POLG gene POLG Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459;Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662;Progressive external ophthalmoplegia, autosomal dominant 1, 157640;Progressive external ophthalmoplegia, autosomal recessive 1, 258450 False 3 100;0;0 3.9 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 16685652;21555342;27592148;30157269;31778857 False 3 100;0;0 3.9 False ENSG00000256525 ENSG00000256525 HGNC:9180 RNASEH1 gene RNASEH1 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 False 3 100;0;0 3.9 False ENSG00000171865 ENSG00000171865 HGNC:18466 RRM2B gene RRM2B Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type);Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 False 3 100;0;0 3.9 False ENSG00000048392 ENSG00000048392 HGNC:17296 SLC25A4 gene SLC25A4 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 27693233 False 3 100;0;0 3.9 False ENSG00000151729 ENSG00000151729 HGNC:10990 SPG7 gene SPG7 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 24727571;9635427;16534102;17646629;18200586;20186691;22571692 False 3 100;0;0 3.9 False ENSG00000197912 ENSG00000197912 HGNC:11237 SSBP1 gene SSBP1 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 34905022;31550240;31550237;31298765;31479473 False 3 75;0;25 3.9 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106028 ENSG00000106028 HGNC:11317 SUCLA2 gene SUCLA2 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 False 3 100;0;0 3.9 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 False 3 100;0;0 3.9 False ENSG00000163541 ENSG00000163541 HGNC:11449 TFAM gene TFAM Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 27448789;31785789;32399598;34647195 False 3 67;0;33 3.9 False ENSG00000108064 ENSG00000108064 HGNC:11741 TK2 gene TK2 Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069 21937588 False 3 100;0;0 3.9 False ENSG00000166548 ENSG00000166548 HGNC:11831 TOP3A gene TOP3A Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 29290614 False 3 100;0;0 3.9 True ENSG00000177302 ENSG00000177302 HGNC:11992 TWNK gene TWNK Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286;Perrault syndrome 5, OMIM:616138 False 3 100;0;0 3.9 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 False 3 100;0;0 3.9 False ENSG00000025708 ENSG00000025708 HGNC:3148 AGK gene AGK Expert Review Red;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350 False 1 67;0;33 3.9 True ENSG00000006530 ENSG00000006530 HGNC:21869 ISCA2 gene ISCA2 Expert Review Red;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, 616370 29297947, 25539947 False 1 67;0;33 3.9 True ENSG00000165898 ENSG00000165898 HGNC:19857 SAMHD1 gene SAMHD1 Expert Review Red;NHS GMS Mitochondrial DNA maintenance disorder Mitochondrial BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952 21102625, 26342080 False 1 33;0;67 3.9 True ENSG00000101347 ENSG00000101347 HGNC:15925