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'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

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.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/542/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (11/12/2019).

This panel will continue to be curated. 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 for the GMS panels.

2 reviewers

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

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

19 Entities

19 reviewed, 16 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green Green List (high evidence)
ATP1A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Migraine, familial hemiplegic, 2, 602481
  • Alternating hemiplegia of childhood 1, 104290
  • Hypokalaemic periodic paralysis
Tags
Green 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, 601003
Tags
Green Green List (high evidence)
CACNA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic ataxia 2 with periodic paralysis
  • Epileptic encephalopathy, early infantile, 42, 617106
  • Migraine, familial hemiplegic, 1, 141500
  • Episodic ataxia, type 2, 108500
Tags
Green Green List (high evidence)
CACNA1S
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Congenital myopathy (Dominant & recessive)
  • Hypokalaemic periodic paralysis, type I, 170400 (Dominant)
Tags
Green 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, 160800
  • Myotonia congenita, recessive, 255700
Tags
Green Green List (high evidence)
CNBP_CCTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myotonic dystrophy 2, 602668
Tags
  • NGS Not Validated
Green Green List (high evidence)
DMPK_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myotonic dystrophy 1, 16090
Tags
Green 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, 160120
Tags
Green 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, 170390
Tags
Green 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
Green Green List (high evidence)
MT-ATP8
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Can resemble skeletal muscle channelopathy
Tags
Green Green List (high evidence)
PYGM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • McArdle disease, 232600
Tags
Green 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 , 11700 (Dominant & recessive)
  • Minicore myopathy with external ophthalmoplegia, 255320 (recessive)
  • Malignant hyperthermia susceptibility 1, 145600 (Dominant)
Tags
Green Green List (high evidence)
SCN4A
2 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 (613345)
  • Dominant: Hyperkalemic periodic paralysis (170500)
  • Paramyotonia congenita (168300). Recessive: Congenital myopathy.
Tags
Green Green List (high evidence)
SLC1A3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Episodic ataxia, type 6, 612656
Tags
Green Green List (high evidence)
SLC2A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epilepsy, idiopathic generalized, susceptibility to, 12, 614847
  • Can resemble skeletal muscle channelopathy
  • GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).
  • GLUT1 deficiency syndrome 2, childhood onset, 612126
Tags
Red 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 Red List (low evidence)
CNBP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 2, 602668
Tags
Red Red List (low evidence)
DMPK
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 1, 160900
Tags

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