Description
This panel is 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'.

The content of this panel (version 1.1: https://panelapp.genomicsengland.co.uk/api/v1/panels/1.1) was signed off under NHS Genomic Medicine Service governance on (23/06/2022).

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 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.

2 reviewers

  • Reviewer Test (GenomicsEnglandTesting)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

64 Entities

64 reviewed, 53 green

List Entity Reviews Mode of inheritance Details
64 Entitiess
Green Green List (high evidence)
ACAD9
2 reviews
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
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
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
1 review
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, myopathy
Tags
  • gene-checked
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750
Tags
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Carnitine deficiency, systemic primary, OMIM:212140
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)
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

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