| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Acute rhabdomyolysis v0.6 | SCN4A | Arina Puzriakova reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.2 | SCN4A |
Arina Puzriakova gene: SCN4A was added gene: SCN4A was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS 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; 17998485; 32978841 Phenotypes for gene: SCN4A were set to Exercise induced cramps, muscle fatigue, myopathy; Hyperkalemic periodic paralysis, type 2, OMIM:170500; Hypokalemic periodic paralysis, type 2, OMIM:613345; Paramyotonia congenita, OMIM:168300; Myotonia congenita, atypical, acetazolamide-responsive, OMIM:608390; Myasthenic syndrome, congenital, 16, OMIM:614198 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||