Congenital myopathy
Gene: SCN4A
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
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
Phenotypes for gene: SCN4A were changed from congenital myopathy to Congenital myopathy, MONDO:0019952
Source NHS GMS was added to SCN4A.
Source London South GLH was added to SCN4A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for SCN4A were set to 26700687
This gene has been classified as Green List (High Evidence).
SCN4A was added to Congenital myopathypanel. Sources: Expert Review
SCN4A was created by anna.sarkozy