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  3. SCN4A
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 22B, severe fetal, MIM# 620369

Created: 22 May 2023, 4:37 a.m.
Last Modified: 22 May 2023, 4:37 a.m.
Panel version: 1.107

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Both dominant and recessive phenotypes characterised primarily by muscle weakness. In utero onset of sever hypokinesia. Polyhydramnios, hydrops, upper and lower limb contractures and talipes have been described.
Created: 30 Dec 2021, 5:43 a.m. | Last Modified: 30 Dec 2021, 5:43 a.m.
Panel Version: 0.1655

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Congenital myopathy; Myasthenic syndrome, congenital, 16 MIM#614198

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Dec 2021, 5:43 a.m.
Last Modified: 30 Dec 2021, 5:43 a.m.
Panel version: 0.1655

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Congenital myopathy 22B, severe fetal, MIM# 620369
  • Myasthenic syndrome, congenital, 16 MIM#614198
OMIM
603967
Clinvar variants
Variants in SCN4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN4A were changed from Congenital myopathy; Myasthenic syndrome, congenital, 16 MIM#614198 to Congenital myopathy 22B, severe fetal, MIM# 620369; Myasthenic syndrome, congenital, 16 MIM#614198

30 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

30 Dec 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SCN4A were changed from HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS to Congenital myopathy; Myasthenic syndrome, congenital, 16 MIM#614198

30 Dec 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SCN4A were set to

30 Dec 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN4A was added gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN4A were set to HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS