Familial Genetic Generalised Epilepsies

Gene: SCN2A

Red List (low evidence)

SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 10 panels

1 review

Richard Scott (Genomics England Curator)

Comment on list classification: Insufficient data for this phenotype (with inherited variants)
Created: 8 May 2016, 7 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Benign Familial Neonatal Infantile Seizures
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
Complete
Panels with this gene

History Filter Activity

8 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

SCN2A was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SCN2A was added to Familial generalised epilepsypanel. Sources: Illumina TruGenome Clinical Sequencing Services