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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 |