Rhabdomyolysis and metabolic muscle disorders
Gene: SCN4A
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
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
Tag Q1_22_rating was removed from gene: SCN4A.
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)
Tag Q1_22_rating tag was added to gene: SCN4A.
Gene: scn4a has been classified as Amber List (Moderate Evidence).
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