Congenital myopathy
Gene: SCN4AEnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 14 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence, phenotype appropriate. Include.Created: 7 Mar 2017, 4:21 p.m.
Comment on publications: 11 cases from 6 familiesCreated: 7 Mar 2017, 4:21 p.m.
Comment on list classification: 11 cases from 6 families.Created: 7 Mar 2017, 4:20 p.m.
Anna Sarkozy (Great Ormond Street Hospital)
it is going to be added in the new diagnostic panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Phenotypes
-
- Congenital myopathy, MONDO:0019952
- OMIM
- 603967
- Clinvar variants
- Variants in SCN4A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Congenital myaesthenic syndrome
- Rhabdomyolysis and metabolic muscle disorders
- Acute rhabdomyolysis
- DDG2P
- Fetal anomalies
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- COVID-19 research
- Skeletal muscle channelopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SCN4A were changed from congenital myopathy to Congenital myopathy, MONDO:0019952
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SCN4A.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to SCN4A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for SCN4A were set to 26700687
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Anna Sarkozy (Great Ormond Street Hospital)SCN4A was added to Congenital myopathypanel. Sources: Expert Review
Created
Anna Sarkozy (Great Ormond Street Hospital)SCN4A was created by anna.sarkozy