Familial Genetic Generalised 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 (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
604403

Publications

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

History Filter Activity

24 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SCN1A were set to Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A;604403

24 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCN1A were set to 10742094

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 May 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).

8 May 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).

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SCN1A was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen