Acute rhabdomyolysis (Version 1.18)

The latest signed off version for the GMS is v1.7. The current version, shown here, may differ from the signed-off version.

Description

This panel will be used for clinical indication 'R419 Acute rhabdomyolysis' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R419 Acute rhabdomyolysis'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

Panel Activity

4 reviewers

Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

66 Entities

66 reviewed, 53 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 66 Entitiess
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 20, OMIM:611126 Tags
Green Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450 Tags
Green Green List (high evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes VLCAD deficiency, OMIM:201475 Tags
Green Green List (high evidence)	AGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease IIIb, OMIM:232400 Glycogen storage disease IIIa, OMIM:232400 Tags
Green Green List (high evidence)	ALDOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease XII, OMIM:611881 Tags
Green Green List (high evidence)	AMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopathy due to myoadenylate deaminase deficiency, OMIM:615511 Tags
Green Green List (high evidence)	ANO5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 Miyoshi muscular dystrophy 3, OMIM:613319 Tags
Green Green List (high evidence)	CACNA1S	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes {Malignant hyperthermia susceptibility 5}, OMIM:601887 Tags
Green Green List (high evidence)	CAV3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Rippling muscle disease, OMIM:606072 Myopathy, distal, Tateyama type, OMIM:614321 Tags
Green Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541 Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Rhabdomyolysis Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green Green List (high evidence)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 4, OMIM:612016 Tags
Green Green List (high evidence)	CPT2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Exercise intolerance and rhabdomyolysis, late onset CPT II deficiency, myopathic, stress-induced, OMIM:255110 Tags
Green Green List (high evidence)	DGUOK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 Tags
Green Green List (high evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Becker muscular dystrophy, OMIM:300376 Exercise induced crams and myoglobinuria Tags
Green Green List (high evidence)	DYSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Miyoshi muscular dystrophy 1, OMIM:254130 Myopathy, distal, with anterior tibial onset, OMIM:606768 Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 Tags
Green Green List (high evidence)	ENO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Exercise induced rhabdomyolysis Glycogen storage disease XIII, OMIM:612932 Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutaric acidemia IIC, OMIM:231680 Tags
Green Green List (high evidence)	FDX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, OMIM:251900 Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155 Tags
Green Green List (high evidence)	FLAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 Tags
Green Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease II, OMIM:232300 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Green Green List (high evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 Exercise intolerance, myalgia Tags
Green Green List (high evidence)	GYG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease XV, OMIM:613507 Tags
Green Green List (high evidence)	GYS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease 0, muscle, OMIM:611556 Tags
Green Green List (high evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial trifunctional protein deficiency, OMIM:609015 Tags
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Trifunctional protein deficiency, OMIM:609015 Tags
Green Green List (high evidence)	ISCU	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopathy with lactic acidosis, hereditary, OMIM:255125 Tags
Green Green List (high evidence)	LAMP2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Danon disease, OMIM:300257 Tags
Green Green List (high evidence)	LDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease XI, OMIM:612933 Tags
Green Green List (high evidence)	LPIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200 Tags
Green Green List (high evidence)	MT-CO1	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green NHS GMS Phenotypes Leber hereditary optic neuropathy Myoglobinuria Tags gene-checked
Green Green List (high evidence)	MT-CO2	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green NHS GMS Phenotypes Cytochrome oxidase deficiency, rhabdomyolysis Tags gene-checked
Green Green List (high evidence)	OBSCN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 Tags
Green Green List (high evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease VII, OMIM:232800 Tags
Green Green List (high evidence)	PGAM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycogen storage disease X, OMIM:261670 Tags
Green Green List (high evidence)	PGK1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Phosphoglycerate kinase 1 deficiency, OMIM:300653 Tags
Green Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type It, OMIM:614921 Tags
Green Green List (high evidence)	PHKA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Muscle glycogenosis, OMIM:300559 Tags
Green Green List (high evidence)	PHKB	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750 Tags Q3_23_demote_red Q3_23_expert_review
Green Green List (high evidence)	POLG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450 Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640 Tags
Green Green List (high evidence)	POLG2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 Tags
Green Green List (high evidence)	PYGM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes McArdle disease, OMIM:232600 Tags
Green Green List (high evidence)	RYR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, OMIM:117000 Tags
Green Green List (high evidence)	SCN4A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Tags
Green Green List (high evidence)	SGCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 Tags
Green Green List (high evidence)	SIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Marinesco-Sjogren syndrome, OMIM:248800 Tags
Green Green List (high evidence)	SLC22A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 Tags
Green Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Tags
Amber Amber List (moderate evidence)	MLIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags Q4_22_promote_green
Amber Amber List (moderate evidence)	MYH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Amber Amber List (moderate evidence)	PRKAG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Cardiomyopathy, hypertrophic 6, OMIM:600858 Glycogen storage disease of heart, lethal congenital, OMIM:261740 Tags
Amber Amber List (moderate evidence)	RBCK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Amber Amber List (moderate evidence)	RRM2B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes 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 Tags
Amber Amber List (moderate evidence)	SUCLA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Red Red List (low evidence)	CYP2C8	1 review 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes Rhabdomyolysis, cerivastatin-induced {Drug metabolism, altered, CYP2C8-related}, OMIM:618018 Tags to_be_confirmed_NHSE
Red Red List (low evidence)	PHKG1	1 review 1 red	Unknown	Sources Expert Review Red NHS GMS Tags
Red Red List (low evidence)	SLC22A12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Exercise induced acute kidney failure Hypouricemia, renal, OMIM:220150 Tags
Red Red List (low evidence)	SLC2A9	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Hypouricemia, renal, 2, OMIM:612076 Exercise induced kidney injury Tags
Red Red List (low evidence)	TSEN54	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Tags
Red Red List (low evidence)	TSFM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 3, OMIM:610505 Tags
Red Red List (low evidence)	TYMP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 Tags

Major version comments

2022-11-30 15:07 Catherine Snow (Genomics England) promoted panel to 1.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (1.0)

Acute rhabdomyolysis (Version 1.18)

4 reviewers

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