Familial Focal Epilepsies

Gene: SCN1A

Green List (high evidence)

SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 16 panels

1 review

Richard Scott (Genomics England Curator)

Green List (high evidence)

Variable phenotype, which can include focal epilepsy
Created: 1 Feb 2016, 11:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
607208

Publications

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

History Filter Activity

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

SCN1A was added to Familial Focal Epilepsiespanel. Sources: Literature

1 Feb 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

SCN1A was created by richardhywel