Skeletal Muscle Channelopathies
Gene: SCN4A

SCN4A (sodium voltage-gated channel alpha subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple allelic disorders with overlapping clinical features. Skeletal channelopathy.
Created: 20 Aug 2020, 8:16 a.m. | Last Modified: 20 Aug 2020, 8:16 a.m.

Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345

Publications

Created: 20 Aug 2020, 8:16 a.m.
Last Modified: 20 Aug 2020, 8:16 a.m.
Panel version: 0.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Hyperkalemic Periodic Paralysis
Hypokalemic periodic paralysis, type 2, 613
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemic Periodic Paralysis
Episodic weakness
Myotonia
Potassium-Aggravated Myotonia
Hyperkalemic periodic paralysis, type 2, 170500
Myasthenic syndrome, acetazolamide-responsive, 614198

OMIM

603967

Clinvar variants

Variants in SCN4A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn4a has been classified as Green List (High Evidence).

20 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN4A were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SCN4A was added gene: SCN4A was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN4A were set to Hyperkalemic Periodic Paralysis; Hypokalemic periodic paralysis, type 2, 613; Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic Periodic Paralysis; Episodic weakness; Myotonia; Potassium-Aggravated Myotonia; Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, acetazolamide-responsive, 614198

Skeletal Muscle Channelopathies Gene: SCN4A