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  2. Rhabdomyolysis and Metabolic Myopathy
  3. SCN4A
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Rhabdomyolysis and Metabolic Myopathy

Gene: SCN4A

Green List (high evidence)
SCN4A (sodium voltage-gated channel alpha subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

SCN4A variants are associated with a number of disorders disorders of abnormal skeletal muscle relaxation and contraction and rhabdomyolysis is specifically reported.
Created: 7 Oct 2020, 10:54 p.m. | Last Modified: 7 Oct 2020, 10:54 p.m.
Panel Version: 0.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SCN4A-related muscle disorders

Publications

Created: 7 Oct 2020, 10:54 p.m.
Last Modified: 7 Oct 2020, 10:54 p.m.
Panel version: 0.80

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Paramyotonia congenita, 168300
  • Myotonia congenita, atypical, acetazolamide-responsive, 608390
  • Hypokalemic periodic paralysis, type 2, 613345
  • Myasthenic syndrome, congenital, 16, 614198
  • Hyperkalemic periodic paralysis, type 2, 170500
OMIM
603967
Clinvar variants
Variants in SCN4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn4a has been classified as Green List (High Evidence).

7 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN4A were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SCN4A was added gene: SCN4A was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN4A were set to Paramyotonia congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Hyperkalemic periodic paralysis, type 2, 170500