Congenital muscular dystrophy and 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
-
- London South GLH
- Expert Review Green
- Expert Review
- NHS GMS
- Phenotypes
-
- Congenital myopathy, MONDO:0019952
- OMIM
- 603967
- Clinvar variants
- Variants in SCN4A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myaesthenic syndrome
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Congenital myopathy
- COVID-19 research
- Fetal anomalies
- DDG2P
- Skeletal Muscle Channelopathies
- Skeletal muscle channelopathy
- Arthrogryposis
- Acute rhabdomyolysis
- Paroxysmal central nervous system disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: SCN4A was added gene: SCN4A was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review,Expert Review Green,London South GLH Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN4A were set to 26700687 Phenotypes for gene: SCN4A were set to Congenital myopathy, MONDO:0019952 Penetrance for gene: SCN4A were set to Complete