Rhabdomyolysis and metabolic muscle disordersGene: SCN4A
SCN4A variants are associated with a number of disorders disorders of abnormal skeletal muscle relaxation and contraction and rhabdomyolysis is specifically reported.
Sources: Expert list
Created: 7 Oct 2020, 10:55 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SCN4A-related muscle disorders
Variants in this GENE are reported as part of current diagnostic practice
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