Genomics England

SCN4A

sodium voltage-gated channel alpha subunit 4

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes 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
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myasthenic syndrome, congenital, 16, OMIM:614198, Congenital myasthenic syndrome 16, MONDO:0013620
Green in Congenital muscular dystrophy and congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R432 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital myopathy, MONDO:0019952
Green in Congenital myaesthenic syndrome Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R80 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myasthenic syndrome, congenital, 16, OMIM:614198
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HYPOKALEMIC PERIODIC PARALYSIS 613345, PARAMYOTONIA CONGENITA OF VON EULENBURG 168300, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, HYPOKALEMIC PERIODIC PARALYSIS
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 4.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes SCN4A-related muscle disorders
Green in Skeletal muscle channelopathy R-numbers: R76 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hypokalemic periodic paralysis, type 2 OMIM:613345, Hyperkalemic periodic paralysis, type 2 OMIM:170500, Paramyotonia congenita OMIM:168300, Congenital myopathy MONDO:0019952.