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 ACAD9 gene ACAD9 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, OMIM:611126 17564966;23836383 False 3 100;0;0 2.8 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450 27856190;11409868 False 3 100;0;0 2.8 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, OMIM:201475 25929793;9973285;8739957 False 3 100;0;0 2.8 False ENSG00000072778 ENSG00000072778 HGNC:92 AGL gene AGL Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIb, OMIM:232400;Glycogen storage disease IIIa, OMIM:232400 25929793;20648714 False 3 100;0;0 2.8 False ENSG00000162688 ENSG00000162688 HGNC:321 ALDOA gene ALDOA Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII, OMIM:611881 2825199;25929793;14615364;8598869;25392908 False 3 100;0;0 2.8 False ENSG00000149925 ENSG00000149925 HGNC:414 ANO5 gene ANO5 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307;Miyoshi muscular dystrophy 3, OMIM:613319 25929793 False 3 100;0;0 2.8 False ENSG00000171714 ENSG00000171714 HGNC:27337 CACNA1S gene CACNA1S Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Malignant hyperthermia susceptibility 5}, OMIM:601887 28011884;19825159;29193480;25735680 False 3 100;0;0 2.8 False ENSG00000081248 ENSG00000081248 HGNC:1397 CAV3 gene CAV3 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rippling muscle disease, OMIM:606072;Myopathy, distal, Tateyama type, OMIM:614321 12666119;15668980;11251997;27312022;16730439;9536092 False 3 100;0;0 2.8 False ENSG00000182533 ENSG00000182533 HGNC:1529 CHKB gene CHKB Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, OMIM:602541 25187204;23692895;21665002;26782016 False 3 100;0;0 2.8 False ENSG00000100288 ENSG00000100288 HGNC:1938 COQ4 gene COQ4 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Rhabdomyolysis;Coenzyme Q10 deficiency, primary, 7, OMIM:616276 26185144;25658047;28472853 False 3 100;0;0 2.8 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4, OMIM:612016 18319072;22036850;26818466;18319074 False 3 100;0;0 2.8 False ENSG00000163050 ENSG00000163050 HGNC:16812 CPT2 gene CPT2 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Exercise intolerance and rhabdomyolysis, late onset;CPT II deficiency, myopathic, stress-induced, OMIM:255110 11994355;23911907;10873395;15622536;21913903;24843804;23184072 False 3 100;0;0 2.8 False ENSG00000157184 ENSG00000157184 HGNC:2330 DGUOK gene DGUOK Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 23043144 False 3 100;0;0 2.8 False ENSG00000114956 ENSG00000114956 HGNC:2858 DMD gene DMD Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Becker muscular dystrophy, OMIM:300376;Exercise induced cramps and myoglobinuria 1822795;19396825 False 3 100;0;0 2.8 False ENSG00000198947 ENSG00000198947 HGNC:2928 DYSF gene DYSF Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, OMIM:254130;Myopathy, distal, with anterior tibial onset, OMIM:606768;Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 17287450;18306167;15477515 False 3 100;0;0 2.8 False ENSG00000135636 ENSG00000135636 HGNC:3097 ENO3 gene ENO3 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Exercise induced rhabdomyolysis;Glycogen storage disease XIII, OMIM:612932 25267339;11506403;25929793;31741825 False 3 100;0;0 2.8 False ENSG00000108515 ENSG00000108515 HGNC:3354 ETFA gene ETFA Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 25929793 False 3 100;0;0 2.8 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308;32550677 False 3 100;0;0 2.8 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, OMIM:231680 25929793 False 3 100;0;0 2.8 False ENSG00000171503 ENSG00000171503 HGNC:3483 FDX2 gene FDX2 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, OMIM:251900 28803783;34905296;30010796;24281368 False 3 100;0;0 2.8 False ENSG00000267673 ENSG00000267673 HGNC:30546 FKRP gene FKRP Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155 26810512;21220724;25929793;22029705;32978841 False 3 100;0;0 2.8 False ENSG00000181027 ENSG00000181027 HGNC:17997 FLAD1 gene FLAD1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 27259049;30311138;28433476 False 3 100;0;0 2.8 False ENSG00000160688 ENSG00000160688 HGNC:24671 GAA gene GAA Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, OMIM:232300 25929793;18425781;14695532 False 3 100;0;0 2.8 False ENSG00000171298 ENSG00000171298 HGNC:4065 GBE1 gene GBE1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 20058079;30397902;15452297 False 3 100;0;0 2.8 False ENSG00000114480 ENSG00000114480 HGNC:4180 GMPPB gene GMPPB Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352;Exercise intolerance, myalgia 25681410;23768512;27874200;28456886;26133662 False 3 100;0;0 2.8 False ENSG00000173540 ENSG00000173540 HGNC:22932 GYG1 gene GYG1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV, OMIM:613507 27544502;25272951;20357282;26255073;26652229 False 3 100;0;0 2.8 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle, OMIM:611556 17928598;19699667;27604308;30397902;21958591;24579562 False 3 100;0;0 2.8 False ENSG00000104812 ENSG00000104812 HGNC:4706 HADHA gene HADHA Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency, OMIM:609015 25929793;24664533 False 3 100;0;0 2.8 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, OMIM:609015 25929793;23868323 False 3 100;0;0 2.8 False ENSG00000138029 ENSG00000138029 HGNC:4803 ISCU gene ISCU Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, OMIM:255125 21165651;29079705;22125086 False 3 100;0;0 2.8 False ENSG00000136003 ENSG00000136003 HGNC:29882 LAMP2 gene LAMP2 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, OMIM:300257 24222494;30527948;27442649 False 3 100;0;0 2.8 False ENSG00000005893 ENSG00000005893 HGNC:6501 LDHA gene LDHA Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XI, OMIM:612933 1959923;7449146;3383424 False 3 100;0;0 2.8 False ENSG00000134333 ENSG00000134333 HGNC:6535 LPIN1 gene LPIN1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200 25929793;18817903;33514355 False 3 100;0;0 2.8 False ENSG00000134324 ENSG00000134324 HGNC:13345 MLIP gene MLIP Expert Review Green;Literature;NHS GMS Acute rhabdomyolysis 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 2.8 False ENSG00000146147 ENSG00000146147 HGNC:21355 MT-CO1 gene MT-CO1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology MITOCHONDRIAL Leber hereditary optic neuropathy;Myoglobinuria 25929793;10980727 False 3 100;0;0 2.8 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology MITOCHONDRIAL Cytochrome oxidase deficiency, rhabdomyolysis 25929793;28521807;14733964;23616164 False 3 100;0;0 2.8 False ENSG00000198712 ENSG00000198712 HGNC:7421 OBSCN gene OBSCN Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 34957489 False 3 100;0;0 2.8 False ENSG00000154358 ENSG00000154358 HGNC:15719 PFKM gene PFKM Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, OMIM:232800 25929793;11949936;8037209 False 3 100;0;0 2.8 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X, OMIM:261670 25929793;8447317;19273759 False 3 100;0;0 2.8 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGK1 gene PGK1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, OMIM:300653 19157875;16567715;1547346;22348148 False 3 100;0;0 2.8 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It, OMIM:614921 25929793;19625727;22492991 False 3 100;0;0 2.8 False ENSG00000079739 ENSG00000079739 HGNC:8905 PHKA1 gene PHKA1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, OMIM:300559 25929793 False 3 100;0;0 2.8 False ENSG00000067177 ENSG00000067177 HGNC:8925 POLG gene POLG Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450;Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640 25929793;23873972;9443501 False 3 100;0;0 2.8 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 21555342;16685652 False 3 100;0;0 2.8 False ENSG00000256525 ENSG00000256525 HGNC:9180 PYGM gene PYGM Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal McArdle disease, OMIM:232600 19433441;25929793;21880526 False 3 100;0;0 2.8 False ENSG00000068976 ENSG00000068976 HGNC:9726 RYR1 gene RYR1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Malignant hyperthermia susceptibility 1}, 145600;Central core disease, OMIM:117000 34348614;21514828;29298851;33250373;34414986 False 3 100;0;0 2.8 False ENSG00000196218 ENSG00000196218 HGNC:10483 SCN4A gene SCN4A Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Exercise induced cramps, muscle fatigue, myopathy;Hyperkalemic periodic paralysis, type 2, OMIM:170500;Hypokalemic periodic paralysis, type 2, OMIM:613345;Paramyotonia congenita, OMIM:168300;Myotonia congenita, atypical, acetazolamide-responsive, OMIM:608390;Myasthenic syndrome, congenital, 16, OMIM:614198 23801527;28779239;17998485;32978841 False 3 100;0;0 2.8 False ENSG00000007314 ENSG00000007314 HGNC:10591 SGCA gene SGCA Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 26453141;23989969;27297959 False 3 100;0;0 2.8 False ENSG00000108823 ENSG00000108823 HGNC:10805 SIL1 gene SIL1 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, OMIM:248800 25929793;9638664;11805249 False 3 100;0;0 2.8 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC22A5 gene SLC22A5 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 29895548;10545605;11261427 False 3 100;0;0 2.8 False ENSG00000197375 ENSG00000197375 HGNC:10969 TANGO2 gene TANGO2 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 26805782;30245509;26805781 False 3 100;0;0 2.8 False ENSG00000183597 ENSG00000183597 HGNC:25439 TK2 gene TK2 Expert Review Green;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 29602790;33457207 False 3 100;0;0 2.8 False ENSG00000166548 ENSG00000166548 HGNC:11831 CASQ1 gene CASQ1 Expert Review Amber;Literature Acute rhabdomyolysis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 26136523;28895244;29039140;30258016;34908252;36514469 False 2 100;0;0 2.8 False ENSG00000143318 ENSG00000143318 HGNC:1512 MYH1 gene MYH1 Expert Review Amber;Literature Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 33755318 False 2 0;100;0 2.8 False ENSG00000109061 ENSG00000109061 HGNC:7567 POC5 gene POC5 Expert Review Amber;Literature Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology;muscle cramps 29272404;40590205 False 2 100;0;0 2.8 False ENSG00000152359 ENSG00000152359 HGNC:26658 PRKAG2 gene PRKAG2 Expert Review Amber;NHS GMS Acute rhabdomyolysis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic 6, OMIM:600858;Glycogen storage disease of heart, lethal congenital, OMIM:261740 3385534;16487706 False 2 0;100;0 2.8 False ENSG00000106617 ENSG00000106617 HGNC:9386 RBCK1 gene RBCK1 Expert Review Amber;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23798481;23889995;23104095;25041762;35017290 False 2 0;100;0 2.8 False ENSG00000125826 ENSG00000125826 HGNC:15864 RRM2B gene RRM2B Expert Review Amber;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, OMIM:613077;Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075 19138848;21646632;19664747 False 2 0;100;0 2.8 False ENSG00000048392 ENSG00000048392 HGNC:17296 SUCLA2 gene SUCLA2 Expert Review Amber;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 17301081;23010432;33231368 False 2 0;100;0 2.8 False ENSG00000136143 ENSG00000136143 HGNC:11448 AMPD1 gene AMPD1 Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy due to myoadenylate deaminase deficiency, OMIM:615511 19258857;15803807;25929793;11331279;23543093 False 1 0;0;100 2.8 False ENSG00000116748 ENSG00000116748 HGNC:468 CYP2C8 gene CYP2C8 Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology Unknown Rhabdomyolysis, cerivastatin-induced;{Drug metabolism, altered, CYP2C8-related}, OMIM:618018 20739906;15365880 False 1 0;0;100 2.8 False ENSG00000138115 ENSG00000138115 HGNC:2622 PHKB gene PHKB Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750 False 1 0;0;100 2.8 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG1 gene PHKG1 Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology Unknown False 1 0;0;100 2.8 False ENSG00000164776 ENSG00000164776 HGNC:8930 SLC22A12 gene SLC22A12 Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Exercise induced acute kidney failure;Hypouricemia, renal, OMIM:220150 False 1 0;0;100 2.8 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A9 gene SLC2A9 Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypouricemia, renal, 2, OMIM:612076;Exercise induced kidney injury False 1 0;0;100 2.8 False ENSG00000109667 ENSG00000109667 HGNC:13446 TSEN54 gene TSEN54 Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A, OMIM:277470 25929793;23177318 False 1 0;0;100 2.8 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, OMIM:610505 17033963 False 1 0;0;100 2.8 False ENSG00000123297 ENSG00000123297 HGNC:12367 TYMP gene TYMP Expert Review Red;NHS GMS Acute rhabdomyolysis Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 24199812 False 1 0;0;100 2.8 False ENSG00000025708 ENSG00000025708 HGNC:3148 XPNPEP3 gene XPNPEP3 Literature Acute rhabdomyolysis 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 2.8 False ENSG00000196236 ENSG00000196236 HGNC:28052