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  2. Renal Tubulopathies and related disorders
  3. SCN4A
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Renal Tubulopathies and related disorders

Gene: SCN4A

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established gene-disease association, multiple allelic disorders with overlapping clinical features. Skeletal channelopathy. Potassium anomalies seen in condition.
Created: 2 Dec 2022, 12:19 a.m. | Last Modified: 2 Dec 2022, 12:19 a.m.
Panel Version: 0.16

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: 2 Dec 2022, 12:19 a.m.
Last Modified: 2 Dec 2022, 12:19 a.m.
Panel version: 0.16

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390
  • Myasthenic syndrome, congenital, 16, MIM# 614198
  • Hypokalemic periodic paralysis, type 2, MIM# 613345
  • Paramyotonia congenita , MIM#168300
  • Hyperkalemic periodic paralysis, type 2, MIM# 170500
OMIM
603967
Clinvar variants
Variants in SCN4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN4A was added gene: SCN4A was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN4A were set to 34671263; 11591859; 8385748 Phenotypes for gene: SCN4A were set to Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345; Paramyotonia congenita , MIM#168300; Hyperkalemic periodic paralysis, type 2, MIM# 170500