SCN4A

sodium voltage-gated channel alpha subunit 4
OMIM: 603967
PanelMode of inheritanceDetails
6 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myasthenic Syndrome, Recessive, Hyperkalemic periodic paralysis, type 2, 170500
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 16, 614198, Congenital Myasthenic Syndrome, Recessive, congenital myasthenic syndromes
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
Signed-off version 1.92
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 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypokalemic periodic paralysis, type 2 (613345), Dominant: Hyperkalemic periodic paralysis (170500), Paramyotonia congenita (168300). Recessive: Congenital myopathy.