The latest signed off version for the GMS is v5.4. The current version, shown here, may differ from the signed-off version.

Rhabdomyolysis and metabolic muscle disorders (Version 5.14)

Level 2: Neurology

Panel types: Rare Disease 100K, Component Of Super Panel, GMS signed-off
Latest signed off version: v5.4 (30 Apr 2025)
Previously signed off versions: v5.1, v5.0, v4.0, v3.0, v2.0, v1.34
Previous code: 55b63d7f22c1fc05fc7a185b

Description

This panel is a component of super panels 'Neuromuscular disorders' (panel id 465) and 'Hypotonic infant' (panel id 490); it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

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.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

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

Panel Activity

11 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Ros Quinlivan (UCLH)

Group: Other NHS organisation
Workplace: Other clinical service
Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

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

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

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

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

Group: Other
Workplace: Other

76 Entities

76 reviewed, 62 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 76 Entitiess
Green List (high evidence)	ABHD5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Chanarin-Dorfman syndrome, OMIM:275630 Tags
Green List (high evidence)	ACAD9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags
Green List (high evidence)	ACADM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Rhabdomyolysis Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Tags
Green List (high evidence)	ACADVL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes VLCAD deficiency, OMIM:201475 Tags
Green List (high evidence)	AGL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green List (high evidence)	ALDOA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease XII, OMIM:611881 Tags
Green List (high evidence)	AMPD1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Myopathy due to myoadenylate deaminase deficiency, OMIM:615511 Tags Q3_25_demote_red Q3_25_expert_review
Green List (high evidence)	ANO5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307 Tags
Green List (high evidence)	CACNA1S	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes {Malignant hyperthermia susceptibility 5}, OMIM:601887 Tags
Green List (high evidence)	CAV3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy, distal, Tateyama type, OMIM:614321 Rippling muscle disease, OMIM:606072 Tags
Green List (high evidence)	CHKB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541 Tags
Green List (high evidence)	COQ4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green List (high evidence)	COQ8A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 4, OMIM:612016 Tags
Green List (high evidence)	CPT2	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes CPT II deficiency, myopathic, stress-induced, OMIM:255110 Exercise intolerance and rhabdomyolysis, late onset Tags
Green List (high evidence)	DGUOK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 Tags
Green List (high evidence)	DMD	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Becker muscular dystrophy 300376 Tags gene-therapy-trial Skewed X-inactivation
Green List (high evidence)	DYSF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1, OMIM:254130 Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 Myopathy, distal, with anterior tibial onset, OMIM:606768 Tags
Green List (high evidence)	ENO3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease XIII, OMIM:612932 Tags
Green List (high evidence)	ETFA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutaric acidemia IIC 231680 Tags
Green List (high evidence)	FDX2	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 Tags
Green List (high evidence)	FKRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green List (high evidence)	FLAD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 Tags
Green List (high evidence)	GAA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease II 232300 Tags
Green List (high evidence)	GBE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Green List (high evidence)	GMPPB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green List (high evidence)	GYG1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Glycogen storage disease XV 613507 Polyglucosan body myopathy 2 616199 Tags
Green List (high evidence)	GYS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease 0, muscle, OMIM:611556 Tags
Green List (high evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial trifunctional protein deficiency, OMIM:609015 Tags
Green List (high evidence)	HADHB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial trifunctional protein deficiency 2, OMIM:620300 Tags
Green List (high evidence)	ISCU	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy with lactic acidosis, hereditary, OMIM:255125 Tags non-coding-known-pathogenic
Green List (high evidence)	LAMP2	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Danon disease 300257 Tags
Green List (high evidence)	LDHA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease XI 612933 Tags
Green List (high evidence)	LPIN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green List (high evidence)	MLIP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags
Green List (high evidence)	MT-CO1	2 reviews 2 green	MITOCHONDRIAL	Sources Expert list Expert Review Expert Review Green NHS GMS Phenotypes Leber hereditary optic neuropathy, MONDO:0010788 myoglobinuria, MONDO:0000866 Tags gene-checked
Green List (high evidence)	MT-CO2	2 reviews 2 green	MITOCHONDRIAL	Sources Expert list Expert Review Expert Review Green NHS GMS Phenotypes Cytochrome oxidase deficiency rhabdomyolysis, MONDO:0005290 myoglobinuria, MONDO:0000866 Tags gene-checked
Green List (high evidence)	OBSCN	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 Tags
Green List (high evidence)	PFKM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease VII 232800 Tags
Green List (high evidence)	PGAM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease X 261670 Tags
Green List (high evidence)	PGK1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Phosphoglycerate kinase 1 deficiency 300653 Tags
Green List (high evidence)	PGM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital disorder of glycosylation, type It 614921 Tags
Green List (high evidence)	PHKA1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscle glycogenosis 300559 Tags
Green List (high evidence)	PNPLA2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags
Green List (high evidence)	POLG	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640 Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450 Tags
Green List (high evidence)	POLG2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Tags
Green List (high evidence)	PRKAG2	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Wolff-Parkinson-White syndrome 194200 Tags
Green List (high evidence)	PYGM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Glycogen storage disease V McArdle disease 232600 AR Tags
Green List (high evidence)	RBCK1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Green List (high evidence)	RRM2B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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 Tags
Green List (high evidence)	RYR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes {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 Tags
Green List (high evidence)	SCN4A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes SCN4A-related muscle disorders Tags
Green List (high evidence)	SGCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 Tags
Green List (high evidence)	SIL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Marinesco-Sjogren syndrome 248800 Tags
Green List (high evidence)	SLC22A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Green List (high evidence)	SUCLA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Green List (high evidence)	TAMM41	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 56, OMIM:620139 Tags
Green List (high evidence)	TANGO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 Tags
Green List (high evidence)	TK2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Tags
Green List (high evidence)	TSFM	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green List (high evidence)	TYMP	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 Tags
Amber List (moderate evidence)	ATP2A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Dominant rhabdomyolysis Tags Q1_25_ promote_green
Amber List (moderate evidence)	CASQ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 Tags Q3_25_promote_green
Amber List (moderate evidence)	MYH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Amber List (moderate evidence)	POC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinal dystrophy diabetes mellitus lipodystrophy renal failure abnormal muscle physiology muscle cramps Tags dd_review Q3_25_promote_green
Red List (low evidence)	CPT1B	1 review	Not set	Sources UKGTN Tags
Red List (low evidence)	CYP2C8	2 reviews 1 green	Unknown	Sources Radboud University Medical Center, Nijmegen Phenotypes {Drug metabolism, altered, CYP2C8-related}, OMIM:618018 Rhabdomyolysis, cerivastatin-induced Tags pharmacogenetics
Red List (low evidence)	FBP2	2 reviews 2 red	Not set	Sources UKGTN Tags
Red List (low evidence)	FKTN	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fukuyama congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Tags
Red List (low evidence)	PHKB	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Red List (low evidence)	PHKG1	2 reviews 2 red	Not set	Sources UKGTN Tags
Red List (low evidence)	SLC22A12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Hypouricemia, renal 220150 Tags
Red List (low evidence)	SLC2A9	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Hypouricemia, renal, 2 612076 {Uric acid concentration, serum, QTL 2} 612076 Tags
Red List (low evidence)	TSEN54	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Tags
Red List (low evidence)	XPNPEP3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322 Tags

Major version comments

2024-08-07 16:16 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 5.0
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 (5.0) following this.

2024-05-01 12:43 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
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 (4.0) following this.

2023-03-22 15:13 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
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 (3.0) following this.

2022-11-30 13:52 Catherine Snow (Genomics England) promoted panel to 2.0
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 (2.0) following this

Panel promoted to V1 4th January 2017

Rhabdomyolysis and metabolic muscle disorders (Version 5.14)

11 reviewers

76 Entities

76 reviewed, 62 green

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags