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DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related hypokalemic periodic paralysis are definitive, monoallelic_autosomal and undetermined (PMIDs: 10599760, 10851391, 10944223, 11591859, 16890191). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00228. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related hyperkalemic periodic paralysis are definitive, monoallelic_autosomal and gain of function (PMIDs: 15596759, 1659668, 1659948). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00392. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related paramyotonia congenita of von Eulenburg are definitive, monoallelic_autosomal and undetermined (PMIDs: 10369308, 1310898, 1316765, 1338909, 17998485, 18203179, 19015483, 19015492, 8388676, 8580427). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00709.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10851391;10599760;10944223;11591859;16890191). The DDG2P confidence category for the disease PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 1338909;19015492;10369308;8580427;1310898;19015483;8388676;1316765;17998485;18203179). The DDG2P confidence category for the disease HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 1659948;1659668;15596759).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SCN4A-related paramyotonia congenita of von Eulenburg; SCN4A-related hypokalemic periodic paralysis; SCN4A-related hyperkalemic periodic paralysis; OMIM:613345.0; PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300; HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400; HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500; OMIM:170500.0; MONDO:0013234; MONDO:0008224; OMIM:168300.0; MONDO:0008195

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, all missense/in frame.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SCN4A was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene SCN4A was changed from Other - please provide details in the comments to Other Publications for gene: SCN4A were updated from 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 to 1310898; 1316765; 10599760; 10851391; 16890191; 1338909; 8388676; 17998485; 1659668; 19015492; 8580427; 11591859; 10369308; 15596759; 18203179; 1659948; 19015483; 10944223

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG 168300 for gene: SCN4A Publications for gene SCN4A were changed from 1659948; 15596759; 1659668 to 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 for gene: SCN4A Publications for gene SCN4A were changed from 16890191; 10851391; 10599760; 10944223; 11591859 to 1659948; 15596759; 1659668

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SCN4A was added gene: SCN4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN4A were set to 16890191; 10851391; 10599760; 10944223; 11591859 Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS 613345 Mode of pathogenicity for gene: SCN4A was set to Other - please provide details in the comments