1. Panels
  2. Skeletal muscle channelopathy
The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Skeletal muscle channelopathy (Version 3.8)

Level 2: Neurology

Relevant disorders: R76, Myotonia congenita
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (22 Mar 2023)
Previously signed off versions: v2.0, v1.2
Description
This panel is used for clinical indication 'R76 Skeletal muscle channelopathy' 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 'R76 Skeletal muscle channelopathy'.

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.
Panel Activity

7 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • 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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

19 Entities

19 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green List (high evidence)
ATP2A1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Brody myopathy OMIM:601003
Tags
Green List (high evidence)
CACNA1S
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Congenital myopathy, MONDO:0019952
  • Hypokalaemic periodic paralysis, type I, OMIM:170400
Tags
Green List (high evidence)
CLCN1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Myotonia congenita, dominant OMIM:160800
  • Myotonia congenita, recessive OMIM:255700
Tags
Green List (high evidence)
DMPK_CTG
STR
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Green List (high evidence)
KCNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic ataxia type 1/myokymia syndrome OMIM:160120
Tags
Green List (high evidence)
KCNJ2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
  • Episodic weakness
  • Periodic paralysis
Tags
Green List (high evidence)
MT-ATP6
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Can resemble skeletal muscle channelopathy
Tags
  • gene-checked
Green List (high evidence)
MT-ATP8
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Tags
  • gene-checked
Green List (high evidence)
PYGM
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • McArdle disease OMIM:232600
Tags
Green List (high evidence)
RYR1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Central core disease, OMIM:117000 (Dominant & recessive)
  • Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive)
  • Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Tags
Green List (high evidence)
SCN4A
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypokalemic periodic paralysis, type 2 OMIM:613345
  • Hyperkalemic periodic paralysis, type 2 OMIM:170500
  • Paramyotonia congenita OMIM:168300
  • Congenital myopathy MONDO:0019952.
Tags
Amber List (moderate evidence)
CNBP_CCTG
STR
5 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
  • STR
Red List (low evidence)
ADCY5
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyskinesia, familial, with facial myokymia, 606703
Tags
Red List (low evidence)
ATP1A2
5 reviews
1 green 3 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • hypokalaemic periodic paralysis MONDO:0008223
Tags
Red List (low evidence)
CACNA1A
5 reviews
1 green 3 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic ataxia, type 2, OMIM:108500
  • Migraine, familial hemiplegic, 1, OMIM:141500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Tags
Red List (low evidence)
CNBP
3 reviews
1 green 		Other
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
  • nucleotide-repeat-expansion
Red List (low evidence)
DMPK
3 reviews
1 green 		Other
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red List (low evidence)
SLC1A3
4 reviews
1 green 3 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic ataxia, type 6, OMIM:612656
  • episodic ataxia type 6, MONDO:0012982
Tags
Red List (low evidence)
SLC2A1
5 reviews
1 green 3 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847
  • GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777
  • GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Tags

Major version comments

  • 2023-03-22 15:25 Achchuthan Shanmugasundram (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 14:56 Arina Puzriakova (Genomics England Curator) 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.

    2019-12-11 11:05 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.28) was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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