SCN4A

sodium voltage-gated channel alpha subunit 4
OMIM: 603967
PanelMode of inheritanceDetails
7 panels
R-numbers: R419
Signed-off version 1.1
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
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 16, OMIM:614198, Congenital myasthenic syndrome 16, MONDO:0013620
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 16, OMIM:614198
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOKALEMIC PERIODIC PARALYSIS 613345, PARAMYOTONIA CONGENITA OF VON EULENBURG 168300, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PARAMYOTONIA CONGENITA OF VON EULENBURG, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, HYPOKALEMIC PERIODIC PARALYSIS
R-numbers: R76
Signed-off version 2.1
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.