Acute rhabdomyolysis
Gene: SCN4A
SCN4A (sodium voltage-gated channel alpha subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 14 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
- OMIM
- 603967
- Clinvar variants
- Variants in SCN4A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital myaesthenic syndrome
- Rhabdomyolysis and metabolic muscle disorders
- Acute rhabdomyolysis
- DDG2P
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Intellectual disability
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- COVID-19 research
- Skeletal muscle channelopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: SCN4A was added gene: SCN4A was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN4A were set to 23801527; 28779239; 17998485; 32978841 Phenotypes for gene: SCN4A were set to 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