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 ABHD5 gene ABHD5 Expert Review Green;Literature;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, OMIM:275630 33455044 False 3 100;0;0 5.17 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD9 gene ACAD9 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 25929793 False 3 0;0;0 5.17 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Rhabdomyolysis; Acyl-CoA dehydrogenase, medium chain, deficiency of 201450" False 3 0;0;0 5.17 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, OMIM:201475 25929793;8739957;9973285 False 3 100;0;0 5.17 False ENSG00000072778 ENSG00000072778 HGNC:92 AGL gene AGL Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease IIIa 232400; Glycogen storage disease IIIb 232400" 25929793;20648714 False 3 100;0;0 5.17 False ENSG00000162688 ENSG00000162688 HGNC:321 ALDOA gene ALDOA Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII, OMIM:611881 25929793;25392908;14615364;2825199;8598869 False 3 100;0;0 5.17 False ENSG00000149925 ENSG00000149925 HGNC:414 ANO5 gene ANO5 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Miyoshi muscular dystrophy 3 613319;Muscular dystrophy, limb-girdle, type 2L 611307" 25929793 False 3 0;0;0 5.17 False ENSG00000171714 ENSG00000171714 HGNC:27337 ATP2A2 gene ATP2A2 Expert Review Green;Literature;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dominant rhabdomyolysis 39970126 False 3 100;0;0 5.17 False ENSG00000174437 ENSG00000174437 HGNC:812 CACNA1S gene CACNA1S Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Malignant hyperthermia susceptibility 5}, OMIM:601887 25735680;28011884;19825159 False 3 100;0;0 5.17 False ENSG00000081248 ENSG00000081248 HGNC:1397 CASQ1 gene CASQ1 Expert Review Green;Literature;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 26136523;28895244;29039140;30258016;34908252;36514469 False 3 100;0;0 5.17 False ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type, OMIM:614321;Rippling muscle disease, OMIM:606072 15668980;12666119;9536092;11251997;16730439 False 3 100;0;0 5.17 False ENSG00000182533 ENSG00000182533 HGNC:1529 CHKB gene CHKB Expert list;Expert Review;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, OMIM:602541 37011121 False 3 100;0;0 5.17 False ENSG00000100288 ENSG00000100288 HGNC:1938 COQ4 gene COQ4 Expert list;Expert Review;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 False 3 100;0;0 5.17 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A Expert list;Expert Review;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4, OMIM:612016 26818466;22036850;18319074;18319072;32337771 False 3 100;0;0 5.17 False ENSG00000163050 ENSG00000163050 HGNC:16812 CPT2 gene CPT2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, myopathic, stress-induced, OMIM:255110;Exercise intolerance and rhabdomyolysis, late onset 23911907;10873395;11994355;15622536;21913903;23184072;24843804 False 3 100;0;0 5.17 False ENSG00000157184 ENSG00000157184 HGNC:2330 DGUOK gene DGUOK Expert list;Expert Review;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 False 3 100;0;0 5.17 False ENSG00000114956 ENSG00000114956 HGNC:2858 DMD gene DMD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Becker muscular dystrophy 300376" False 3 0;0;0 5.17 False ENSG00000198947 ENSG00000198947 HGNC:2928 DYSF gene DYSF Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, OMIM:254130;Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601;Myopathy, distal, with anterior tibial onset, OMIM:606768 25929793 False 3 0;0;0 5.17 False ENSG00000135636 ENSG00000135636 HGNC:3097 ENO3 gene ENO3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII, OMIM:612932 11506403;25929793;25267339 False 3 100;0;0 5.17 False ENSG00000108515 ENSG00000108515 HGNC:3354 ETFA gene ETFA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 25929793 False 3 0;0;0 5.17 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308 False 3 0;0;0 5.17 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" 25929793 False 3 0;0;0 5.17 False ENSG00000171503 ENSG00000171503 HGNC:3483 FDX2 gene FDX2 Expert list;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900;mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 24281368;30010796;28803783 False 3 100;0;0 5.17 False ENSG00000267673 ENSG00000267673 HGNC:30546 FKRP gene FKRP Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155" False 3 0;0;0 5.17 False ENSG00000181027 ENSG00000181027 HGNC:17997 FLAD1 gene FLAD1 Expert list;Expert Review;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 False 3 100;0;0 5.17 False ENSG00000160688 ENSG00000160688 HGNC:24671 GAA gene GAA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease II 232300" 25929793;14695532;18425781 False 3 100;0;0 5.17 False ENSG00000171298 ENSG00000171298 HGNC:4065 GBE1 gene GBE1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 15452297;20058079 False 3 100;0;0 5.17 False ENSG00000114480 ENSG00000114480 HGNC:4180 GMPPB gene GMPPB Expert list;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352;autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 28456886;27874200;25681410;26133662;23768512 False 3 100;0;0 5.17 False ENSG00000173540 ENSG00000173540 HGNC:22932 GYG1 gene GYG1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "?Glycogen storage disease XV 613507;Polyglucosan body myopathy 2 616199" 20357282;25272951;27544502;26652229;26255073 False 3 100;0;0 5.17 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle, OMIM:611556 27604308;24579562;21958591;19699667;17928598 False 3 100;0;0 5.17 False ENSG00000104812 ENSG00000104812 HGNC:4706 HADHA gene HADHA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency, OMIM:609015 25929793 False 3 0;0;0 5.17 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 2, OMIM:620300 25929793;35403730 False 3 100;0;0 5.17 False ENSG00000138029 ENSG00000138029 HGNC:4803 ISCU gene ISCU Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, OMIM:255125 21165651;22125086;29079705 False 3 0;0;0 5.17 False ENSG00000136003 ENSG00000136003 HGNC:29882 LAMP2 gene LAMP2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Danon disease 300257" False 3 0;0;0 5.17 False ENSG00000005893 ENSG00000005893 HGNC:6501 LDHA gene LDHA Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal " Glycogen storage disease XI 612933" 27604308;1953713 False 3 100;0;0 5.17 False ENSG00000134333 ENSG00000134333 HGNC:6535 LPIN1 gene LPIN1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal " Myoglobinuria, acute recurrent, autosomal recessive 268200" 25929793 False 3 0;0;0 5.17 False ENSG00000134324 ENSG00000134324 HGNC:13345 MLIP gene MLIP Expert Review Green;Literature;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 34581780;34935254;35672413;35915960;35942668 False 3 100;0;0 5.17 False ENSG00000146147 ENSG00000146147 HGNC:21355 MT-CO1 gene MT-CO1 Expert list;Expert Review;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology MITOCHONDRIAL Leber hereditary optic neuropathy, MONDO:0010788;myoglobinuria, MONDO:0000866 10980727;25929793 False 3 100;0;0 5.17 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert list;Expert Review;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology MITOCHONDRIAL Cytochrome oxidase deficiency;rhabdomyolysis, MONDO:0005290;myoglobinuria, MONDO:0000866 14733964;23616164;25929793;28521807 False 3 100;0;0 5.17 False ENSG00000198712 ENSG00000198712 HGNC:7421 OBSCN gene OBSCN Expert Review;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 18477606;33438037;34957489 False 3 67;0;33 5.17 False ENSG00000154358 ENSG00000154358 HGNC:15719 PFKM gene PFKM Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease VII 232800" 25929793;11949936;8037209 False 3 100;0;0 5.17 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease X 261670" 25929793;8447317;19273759 False 3 100;0;0 5.17 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGK1 gene PGK1 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Phosphoglycerate kinase 1 deficiency 300653" 22348148;1547346 False 3 100;0;0 5.17 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type It 614921" 25929793;19625727;22492991 False 3 100;0;0 5.17 False ENSG00000079739 ENSG00000079739 HGNC:8905 PHKA1 gene PHKA1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Muscle glycogenosis 300559" 27604308;25929793;12825073;15637709 False 3 100;0;0 5.17 False ENSG00000067177 ENSG00000067177 HGNC:8925 PNPLA2 gene PNPLA2 Expert list;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy, OMIM:610717 18952067;21544567;25956450;32269696 False 3 100;0;0 5.17 False ENSG00000177666 ENSG00000177666 HGNC:30802 POC5 gene POC5 Expert Review Green;Literature;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology;muscle cramps 29272404;40590205 False 3 100;0;0 5.17 False ENSG00000152359 ENSG00000152359 HGNC:26658 POLG gene POLG Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640;Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450 25929793 False 3 0;0;0 5.17 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131" 25929793;27592148;30157269;21555342;31286721 False 3 0;0;0 5.17 False ENSG00000256525 ENSG00000256525 HGNC:9180 PRKAG2 gene PRKAG2 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted " Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740; Wolff-Parkinson-White syndrome 194200" 27604308 False 3 0;0;100 5.17 False ENSG00000106617 ENSG00000106617 HGNC:9386 PYGM gene PYGM Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease V McArdle disease 232600 AR" 25929793;16786513;8316268 False 3 100;0;0 5.17 False ENSG00000068976 ENSG00000068976 HGNC:9726 RBCK1 gene RBCK1 Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23104095;23889995;23798481;25041762 False 3 100;0;0 5.17 False ENSG00000125826 ENSG00000125826 HGNC:15864 RRM2B gene RRM2B Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology 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" 25929793 False 3 0;0;0 5.17 False ENSG00000048392 ENSG00000048392 HGNC:17296 RYR1 gene RYR1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Malignant hyperthermia susceptibility 1}, 145600;Central core disease, 117000;Minicore myopathy with external ophthalmoplegia, 255320;Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600 False 3 0;0;0 5.17 False ENSG00000196218 ENSG00000196218 HGNC:10483 SCN4A gene SCN4A Expert list;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal SCN4A-related muscle disorders 23801527;28779239;32978841 False 3 100;0;0 5.17 False ENSG00000007314 ENSG00000007314 HGNC:10591 SGCA gene SGCA Expert list;Expert Review Green;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 27297959;26453141;23989969 False 3 100;0;0 5.17 False ENSG00000108823 ENSG00000108823 HGNC:10805 SIL1 gene SIL1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Marinesco-Sjogren syndrome 248800" 25929793 False 3 0;0;0 5.17 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC22A5 gene SLC22A5 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 10545605;11261427;25929793 False 3 100;0;0 5.17 False ENSG00000197375 ENSG00000197375 HGNC:10969 SUCLA2 gene SUCLA2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 25929793 False 3 0;0;0 5.17 False ENSG00000136143 ENSG00000136143 HGNC:11448 TAMM41 gene TAMM41 Expert Review Green;Literature;NHS GMS Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 56, OMIM:620139 35321494 False 3 100;0;0 5.17 False ENSG00000144559 ENSG00000144559 HGNC:25187 TANGO2 gene TANGO2 Expert Review;Expert Review Green Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 26805782;30245509 False 3 100;0;0 5.17 False ENSG00000183597 ENSG00000183597 HGNC:25439 TK2 gene TK2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 25929793 False 3 0;0;0 5.17 False ENSG00000166548 ENSG00000166548 HGNC:11831 TSFM gene TSFM Expert Review;Expert Review Green Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 610505 False 3 50;0;50 5.17 False ENSG00000123297 ENSG00000123297 HGNC:12367 TYMP gene TYMP Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 25929793 False 3 0;0;100 5.17 False ENSG00000025708 ENSG00000025708 HGNC:3148 MYH1 gene MYH1 Expert Review Amber;Literature Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 33755318 False 2 0;100;0 5.17 False ENSG00000109061 ENSG00000109061 HGNC:7567 AMPD1 gene AMPD1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy due to myoadenylate deaminase deficiency, OMIM:615511 25929793;15803807;23543093;19258857 False 1 33;0;67 5.17 False ENSG00000116748 ENSG00000116748 HGNC:468 CPT1B gene CPT1B UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology False 1 0;0;0 5.17 False ENSG00000205560 ENSG00000205560 HGNC:2329 CYP2C8 gene CYP2C8 Radboud University Medical Center, Nijmegen Rhabdomyolysis and metabolic muscle disorders Neurology Unknown {Drug metabolism, altered, CYP2C8-related}, OMIM:618018;Rhabdomyolysis, cerivastatin-induced 15365880;20739906 False 1 100;0;0 5.17 False ENSG00000138115 ENSG00000138115 HGNC:2622 FBP2 gene FBP2 UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology False 1 0;0;100 5.17 False ENSG00000130957 ENSG00000130957 HGNC:3607 FKTN gene FKTN Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800" 25929793 False 1 0;0;100 5.17 False ENSG00000106692 ENSG00000106692 HGNC:3622 PHKB gene PHKB Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750" 9215682;30397902 False 1 0;0;100 5.17 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG1 gene PHKG1 UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology False 1 0;0;100 5.17 False ENSG00000164776 ENSG00000164776 HGNC:8930 SLC22A12 gene SLC22A12 Expert Review;Expert Review Red Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Hypouricemia, renal 220150" False 1 0;0;100 5.17 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A9 gene SLC2A9 Expert Review;Expert Review Red Rhabdomyolysis and metabolic muscle disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypouricemia, renal, 2 612076;{Uric acid concentration, serum, QTL 2} 612076" False 1 0;0;100 5.17 False ENSG00000109667 ENSG00000109667 HGNC:13446 TSEN54 gene TSEN54 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A, OMIM:277470 23177318;25929793 False 1 0;0;100 5.17 False ENSG00000182173 ENSG00000182173 HGNC:27561 XPNPEP3 gene XPNPEP3 Literature Rhabdomyolysis and metabolic muscle disorders Neurology BIALLELIC, autosomal or pseudoautosomal myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322 40953058 False 1 0;0;100 5.17 False ENSG00000196236 ENSG00000196236 HGNC:28052