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Newborns main panel

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 14 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 2:07 p.m. | Last Modified: 25 Sep 2024, 2:07 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 2:07 p.m.
Last Modified: 25 Sep 2024, 2:07 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34671263 - 6 cases reviewed
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SCN4A.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital myasthenic syndrome-16 for gene: SCN4A

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SCN4A. Added phenotypes Congenital myasthenic syndrome-16 for gene: SCN4A Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SCN4A were changed from Glycogen storage disease Ib and 1c to Congenital myasthenic syndrome-16

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis type 2; Paramyotonia congenita and Sodium channel myotonia; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome-16 to Glycogen storage disease Ib and 1c

31 May 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SCN4A. Mode of inheritance for gene SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital myasthenic syndrome-16 for gene: SCN4A Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Paramyotonia congenita and Sodium channel myotonia for gene: SCN4A

27 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperkalemic periodic paralysis for gene: SCN4A

27 Mar 2023, Gel status: 0

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene SCN4A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hypokalemic periodic paralysis type 2 for gene: SCN4A

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SCN4A was added gene: SCN4A was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCN4A were set to Congenital myasthenic syndrome-16