Rhabdomyolysis and metabolic muscle disorders
Gene: SCN4AEnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 14 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 2.5
Comment on list classification: New gene added by Zornitza Stark. Rhabdomyolysis has been reported as a presenting feature in some cases of SCN4A-related muscle disorders. Sufficient unrelated cases (>3) in literature to promote this gene to Green at the next GMS review.Created: 17 Jan 2022, 12:39 p.m. | Last Modified: 17 Jan 2022, 12:39 p.m.
Panel Version: 1.72
Zornitza Stark (Australian Genomics)
SCN4A variants are associated with a number of disorders disorders of abnormal skeletal muscle relaxation and contraction and rhabdomyolysis is specifically reported.
Sources: Expert listCreated: 7 Oct 2020, 10:55 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SCN4A-related muscle disorders
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- SCN4A-related muscle disorders
- 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
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_22_rating was removed from gene: SCN4A.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to SCN4A. Source NHS GMS was added to SCN4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_22_rating tag was added to gene: SCN4A.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: scn4a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SCN4A was added gene: SCN4A was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list 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; 32978841 Phenotypes for gene: SCN4A were set to SCN4A-related muscle disorders Review for gene: SCN4A was set to GREEN gene: SCN4A was marked as current diagnostic