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 AARS2 gene AARS2 Expert Review;Expert Review Green;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8 MIM#614096 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 21549344;25058219 False 3 100;0;0 1.20 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABHD5 gene ABHD5 Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dorfman-Chanarin disease MONDO:0010155 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 31883530 False 3 100;0;0 1.20 True ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD9 gene ACAD9 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 30025539 False 3 100;0;0 1.20 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of 201450;Rhabdomyolysis Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 False 3 100;0;0 1.20 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency 201475 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 9546340;24263034 False 3 100;0;0 1.20 True ENSG00000072778 ENSG00000072778 HGNC:92 AGK gene AGK Expert Review Green;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sengers Syndrome (MIM#212350;MONDO:0008922) Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 22284826 False 3 100;0;0 1.20 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa 232400;Glycogen storage disease IIIb 232400 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 20301788 False 3 100;0;0 1.20 True ENSG00000162688 ENSG00000162688 HGNC:321 AHCY gene AHCY Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 28779239;15024124;30121674 False 3 100;0;0 1.20 True ENSG00000101444 ENSG00000101444 HGNC:343 AIFM1 gene AIFM1 Expert Review;Expert Review Green;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816);Encephalamyopathy, Mitochondrial, X-Linked Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 20362274;22019070;26173962 False 3 100;0;0 1.20 True ENSG00000156709 ENSG00000156709 HGNC:8768 ALDOA gene ALDOA Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII 611881 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 8598869;25392908;14615364 False 3 100;0;0 1.20 True ENSG00000149925 ENSG00000149925 HGNC:414 ANO5 gene ANO5 Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 3 613319;Muscular dystrophy, limb-girdle, type 2L 611307 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 23193613 False 3 100;0;0 1.20 True ENSG00000171714 ENSG00000171714 HGNC:27337 ATP2A1 gene ATP2A1 Expert list;Expert Review Green Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brody myopathy, MIM# 601003 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 32040565 False 3 50;50;0 1.20 True ENSG00000196296 ENSG00000196296 HGNC:811 C1QBP gene C1QBP Expert Review Green;Literature;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive external opthalmoplegia;mitochondrial myopathy Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 32652806;28942965 False 3 100;0;0 1.20 True ENSG00000108561 ENSG00000108561 HGNC:1243 CACNA1S gene CACNA1S Expert list;Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Malignant hyperthermia susceptibility 5}, 601887 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 20301325;28011884 False 3 100;0;0 1.20 True Other ENSG00000081248 ENSG00000081248 HGNC:1397 CASQ1 gene CASQ1 Expert list;Expert Review Green;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 30258016 False 3 67;33;0 1.20 True ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 Expert list;Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type IC 607801;Rippling muscle disease 606072;Myopathy, distal, Tateyama type 614321 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 False 3 100;0;0 1.20 True ENSG00000182533 ENSG00000182533 HGNC:1529 CHCHD10 gene CHCHD10 Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 30874923;29112723;25193783;24934289 False 3 100;0;0 1.20 True Other ENSG00000250479 ENSG00000250479 HGNC:15559 COQ8A gene COQ8A Expert list;Expert Review Green Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4 MIM#612016 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 32337771 False 3 100;0;0 1.20 True ENSG00000163050 ENSG00000163050 HGNC:16812 CPT2 gene CPT2 Expert list;Expert Review Green;Literature;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 False 3 100;0;0 1.20 True ENSG00000157184 ENSG00000157184 HGNC:2330 DGUOK gene DGUOK Expert Review Green;Literature;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880;Portal hypertension, noncirrhotic, 1, MIM# 617068;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 11687800;12874104;15887277;23043144;26874653 False 3 50;0;50 1.20 True ENSG00000114956 ENSG00000114956 HGNC:2858 DMD gene DMD Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Becker muscular dystrophy 300376 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 20301298 False 3 100;0;0 1.20 True ENSG00000198947 ENSG00000198947 HGNC:2928 DNA2 gene DNA2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 31636600;23352259;25635128;28554558 False 3 50;50;0 1.20 True ENSG00000138346 ENSG00000138346 HGNC:2939 DTNA gene DTNA Expert Review Green;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, MONDO:0020121, DTNA-related Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 PMID: 36799992 False 3 50;50;0 1.20 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134769 ENSG00000134769 HGNC:3057 DYSF gene DYSF Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2B 253601;Myopathy, distal, with anterior tibial onset 606768;Miyoshi muscular dystrophy 1 254130 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 32978841;27602406 False 3 100;0;0 1.20 True ENSG00000135636 ENSG00000135636 HGNC:3097 ENO3 gene ENO3 Expert list;Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII 612932 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 11506403;31741825;25267339 False 3 100;0;0 1.20 True ENSG00000108515 ENSG00000108515 HGNC:3354 ETFA gene ETFA Expert list;Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA 231680 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 21347544;1430199 False 3 100;0;0 1.20 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFDH gene ETFDH Expert list;Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC 231680 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 17412732;27038534 False 3 100;0;0 1.20 True ENSG00000171503 ENSG00000171503 HGNC:3483 FASTKD2 gene FASTKD2 Expert Review;Expert Review Green;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44 (MIM#618855) Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 31944455;18771761 False 3 50;50;0 1.20 True ENSG00000118246 ENSG00000118246 HGNC:29160 FDX2 gene FDX2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Literature;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 24281368;30010796;28803783 False 3 100;0;0 1.20 True ENSG00000267673 ENSG00000267673 HGNC:30546 FKRP gene FKRP Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 27602406;11592034;11741828;14647208;19299310;19155270 False 3 100;0;0 1.20 True ENSG00000181027 ENSG00000181027 HGNC:17997 FLAD1 gene FLAD1 Expert list;Expert Review Green Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 34454814;34718578;31392824;30982706;30311138;30427553;28433476;27259049;25058219 False 3 100;0;0 1.20 True ENSG00000160688 ENSG00000160688 HGNC:24671 GAA gene GAA Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II (MIM#232300) Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 25103075;27365701 False 3 100;0;0 1.20 True ENSG00000171298 ENSG00000171298 HGNC:4065 GBE1 gene GBE1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM# 232500;Polyglucosan body disease, adult form MIM#263570 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 8613547;20301758 False 3 100;0;0 1.20 True ENSG00000114480 ENSG00000114480 HGNC:4180 GFER gene GFER Expert Review;Expert Review Green;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076) Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 28155230;19409522;26018198 False 3 100;0;0 1.20 True ENSG00000127554 ENSG00000127554 HGNC:4236 GMPPB gene GMPPB Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352;Limb myalgia;exercise intolerance;myoglobinuria" Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 28456886;27874200;25681410 False 3 100;0;0 1.20 True ENSG00000173540 ENSG00000173540 HGNC:22932 GUK1 gene GUK1 Expert Review Green;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 39230499 False 3 100;0;0 1.20 True ENSG00000143774 ENSG00000143774 HGNC:4693 GYG1 gene GYG1 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XV 613507;Polyglucosan body myopathy 2 616199 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 25272951;26652229 False 3 100;0;0 1.20 True ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle 611556 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 17928598;19699667;18358695;21958591 False 3 100;0;0 1.20 True ENSG00000104812 ENSG00000104812 HGNC:4706 HADHA gene HADHA Expert Review Green;Literature;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency MIM#609016;Trifunctional protein deficiency MIM#609015 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 25778941;7811722;29459657 False 3 100;0;0 1.20 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Literature;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency MIM#609015 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 25778941;30682426;9259266;29956646 False 3 100;0;0 1.20 True ENSG00000138029 ENSG00000138029 HGNC:4803 HMBS gene HMBS Expert Review Green;Literature;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent MIM#176000 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 25389600;18647325 False 3 100;0;0 1.20 True ENSG00000256269 ENSG00000256269 HGNC:4982 ISCU gene ISCU Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, MIM# 255125 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 29079705;18304497;18296749;19567699 False 3 100;0;0 1.20 True ENSG00000136003 ENSG00000136003 HGNC:29882 LAMP2 gene LAMP2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, MIM# 300257;MONDO:0010281 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 False 3 100;0;0 1.20 True ENSG00000005893 ENSG00000005893 HGNC:6501 LDHA gene LDHA Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XI, MIM# 612933 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 2334430;1959923;8327147 False 3 100;0;0 1.20 True ENSG00000134333 ENSG00000134333 HGNC:6535 LPIN1 gene LPIN1 Expert list;Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive 268200 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 22481384;28649549;18817903;32410653 False 3 100;0;0 1.20 True ENSG00000134324 ENSG00000134324 HGNC:13345 MAN2B1 gene MAN2B1 Expert list;Expert Review Green Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alpha-mannosidosis MONDO:0009561 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 20301570 False 3 100;0;0 1.20 True ENSG00000104774 ENSG00000104774 HGNC:6826 MGME1 gene MGME1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Other;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial DNA depletion syndrome 11 MONDO:0014039 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 23313956;29572490;28711739 False 3 100;0;0 1.20 True ENSG00000125871 ENSG00000125871 HGNC:16205 MLIP gene MLIP Expert Review Green;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 34581780 False 3 100;0;0 1.20 True ENSG00000146147 ENSG00000146147 HGNC:21355 OBSCN gene OBSCN Expert Review Green;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rhabdomyolysis, MONDO:0005290, OBSCN-related Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 PMID: 34957489 False 3 33;0;67 1.20 True ENSG00000154358 ENSG00000154358 HGNC:15719 OPA1 gene OPA1 Expert list;Expert Review Green;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 30165240;20301426 False 3 50;50;0 1.20 True ENSG00000198836 ENSG00000198836 HGNC:8140 PFKM gene PFKM Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, MIM# 232800 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 2140573;8444874;7513946;7550225 False 3 100;0;0 1.20 True ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X, MIM# 261670 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 8447317;34237446;30310767 False 3 100;0;0 1.20 True ENSG00000164708 ENSG00000164708 HGNC:8889 PGK1 gene PGK1 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency 300653;MONDO:0010392 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 6933565;1547346;7577653;9512313 False 3 100;0;0 1.20 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It, MIM# 614921 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 31563034;26303607;24878975;27206562;29858906;32681750;19625727;24499211 False 3 100;0;0 1.20 True ENSG00000079739 ENSG00000079739 HGNC:8905 PHKA1 gene PHKA1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, MIM# 300559 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 7874115;12825073;9731190 False 3 100;0;0 1.20 True ENSG00000067177 ENSG00000067177 HGNC:8925 PNPLA2 gene PNPLA2 Expert list;Expert Review Green Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neutral lipid storage disease with myopathy MIM#610717" Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 18952067;25287355;25956450 False 3 67;0;33 1.20 True ENSG00000177666 ENSG00000177666 HGNC:30802 POLG gene POLG Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459;Progressive external ophthalmoplegia, autosomal dominant 1 157640;Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700;Progressive external ophthalmoplegia, autosomal recessive 1 258450 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 30451971 False 3 100;0;0 1.20 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 16685652;21555342;27592148;31778857 False 3 50;50;0 1.20 True ENSG00000256525 ENSG00000256525 HGNC:9180 PRKAG2 gene PRKAG2 Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome 194200;Cardiomyopathy, hypertrophic 6 600858;Glycogen storage disease of heart, lethal congenital 261740 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 15766830;31049239 False 3 100;0;0 1.20 True ENSG00000106617 ENSG00000106617 HGNC:9386 PUS1 gene PUS1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 1.20 True ENSG00000177192 ENSG00000177192 HGNC:15508 PYGM gene PYGM Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease V McArdle disease 232600 AR Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 32386344 False 3 100;0;0 1.20 True ENSG00000068976 ENSG00000068976 HGNC:9726 RBCK1 gene RBCK1 Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 29260357;29695863 False 3 100;0;0 1.20 True ENSG00000125826 ENSG00000125826 HGNC:15864 RMND1 gene RMND1 Expert Review;Expert Review Green;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation defect type 11 MONDO:0013969 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 23022099;25604853;27843092 False 3 100;0;0 1.20 False ENSG00000155906 ENSG00000155906 HGNC:21176 RRM2B gene RRM2B Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 32827185;24741716 False 3 100;0;0 1.20 True ENSG00000048392 ENSG00000048392 HGNC:17296 RYR1 gene RYR1 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Malignant hyperthermia susceptibility 1}, 145600;Central core disease, 117000;King-Denborough syndrome, 145600;Neuromuscular disease, congenital, with uniform type 1 fiber, 117000;Minicore myopathy with external ophthalmoplegia, 255320 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 20301325;23553484 False 3 67;33;0 1.20 True ENSG00000196218 ENSG00000196218 HGNC:10483 SCN4A gene SCN4A Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paramyotonia congenita, 168300;Myotonia congenita, atypical, acetazolamide-responsive, 608390;Hypokalemic periodic paralysis, type 2, 613345;Myasthenic syndrome, congenital, 16, 614198;Hyperkalemic periodic paralysis, type 2, 170500 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 23801527;28779239;32978841 False 3 100;0;0 1.20 True ENSG00000007314 ENSG00000007314 HGNC:10591 SCO2 gene SCO2 Expert Review;Expert Review Green;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 23719228 False 3 100;0;0 1.20 True ENSG00000130489 ENSG00000130489 HGNC:10604 SGCA gene SGCA Expert list;Expert Review Green Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 27297959;26453141;23989969 False 3 100;0;0 1.20 True ENSG00000108823 ENSG00000108823 HGNC:10805 SIL1 gene SIL1 Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome 248800 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 False 3 100;0;0 1.20 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC22A5 gene SLC22A5 Expert Review Green;Literature;NHS GMS;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary 212140 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 9916797;10072434;10051646;10425211;10480371;10679939;9837751;23379544;31399326 False 3 100;0;0 1.20 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A20 gene SLC25A20 Expert Review Green;Literature;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency MIM#212138 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 24088670 False 3 100;0;0 1.20 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A32 gene SLC25A32 Expert list;Expert Review Green;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Exercise intolerance, riboflavin-responsive MONDO:0014795 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 26933868;35727412;34764427;28443623 False 3 100;0;0 1.20 True ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A4 gene SLC25A4 Expert list;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 28823815 False 3 100;0;0 1.20 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC52A2 gene SLC52A2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 29193829;31868069;29053833;26072523 False 3 100;0;0 1.20 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 29193829;31868069;29053833;26072523 False 3 100;0;0 1.20 True ENSG00000101276 ENSG00000101276 HGNC:16187 SUCLA2 gene SUCLA2 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 15877282;17287286;17301081;23759946;33231368;33230181;28243576;27913098;27651038 False 3 100;0;0 1.20 True ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review;Expert Review Green;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial DNA depletion syndrome 9 MONDO:0009504 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 30560055;29217198 False 3 100;0;0 1.20 True ENSG00000163541 ENSG00000163541 HGNC:11449 TAMM41 gene TAMM41 Expert Review Green;Literature;Other Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 35321494;29253589 False 3 100;0;0 1.20 True ENSG00000144559 ENSG00000144559 HGNC:25187 TANGO2 gene TANGO2 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 26805781 False 3 100;0;0 1.20 True ENSG00000183597 ENSG00000183597 HGNC:25439 TAZ gene TAZ Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome MIM#302060 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 26845103 False 3 100;0;0 1.20 True ENSG00000102125 ENSG00000102125 HGNC:11577 TK2 gene TK2 Expert Review Green;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 33457207 False 3 100;0;0 1.20 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126B gene TMEM126B Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 27374774;27374773 False 3 100;0;0 1.20 True ENSG00000171204 ENSG00000171204 HGNC:30883 TSFM gene TSFM Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 610505 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 31267352;17033963 False 3 100;0;0 1.20 True ENSG00000123297 ENSG00000123297 HGNC:12367 TWNK gene TWNK Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 20880070 False 3 100;0;0 1.20 True ENSG00000107815 ENSG00000107815 HGNC:1160 YARS2 gene YARS2 Expert list;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 28395030 False 3 100;0;0 1.20 True ENSG00000139131 ENSG00000139131 HGNC:24249 ASPH gene ASPH Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 35697689 False 2 50;50;0 1.20 True ENSG00000198363 ENSG00000198363 HGNC:757 CHKB gene CHKB Expert list;Expert Review Amber;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;recurrent rhabdomyolysis;CHKB-Related Muscular Dystrophy Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 26782016;37011121;21665002;23692895;24997086 False 2 50;50;0 1.20 True ENSG00000100288 ENSG00000100288 HGNC:1938 ETFB gene ETFB Expert Review Amber;Royal Melbourne Hospital Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB 231680 Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 12815589;7912128 False 2 0;100;0 1.20 True ENSG00000105379 ENSG00000105379 HGNC:3482 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 38637313 False 2 0;100;0 1.20 True ENSG00000165912 ENSG00000165912 HGNC:8572 SLC52A1 gene SLC52A1 Expert list;Expert Review Amber;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Maternal riboflavin deficiency MONDO:0014013" Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 37510312;29122468;21089064 False 2 0;50;50 1.20 True ENSG00000132517 ENSG00000132517 HGNC:30225 TNNT1 gene TNNT1 Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Nemaline myopathy 5, Amish type MIM#605355" Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 31970803 False 2 50;50;0 1.20 True ENSG00000105048 ENSG00000105048 HGNC:11948 TRPV1 gene TRPV1 Expert Review Amber;Literature Rhabdomyolysis and Metabolic Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exertional heat stroke;rhabdomyolysis Rhabdomyolysis;HP:0003201;Exercise intolerance;HP:0003546;Metabolic myopathy;MONDO:0020123 32471784 False 2 0;33;67 1.20 True ENSG00000196689 ENSG00000196689 HGNC:12716