Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Rhabdomyolysis and Metabolic Myopathy v0.81 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Rhabdomyolysis and Metabolic Myopathy v0.81 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.81 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Rhabdomyolysis and Metabolic Myopathy v0.80 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23801527, 28779239, 32978841; Phenotypes: SCN4A-related muscle disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rhabdomyolysis and Metabolic Myopathy v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Paramyotonia congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Hyperkalemic periodic paralysis, type 2, 170500