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Epilepsy Plus

Gene: SCN2A

Green List (high evidence)
SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 7 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Benign Familial Neonatal Infantile Seizures
  • Early Infantile Epileptic Encephalopathy, Autosomal Dominant
  • Seizures, benign familial infantile, 3
  • Epileptic encephalopathy, early infantile, 11
  • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Sep 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SCN2A was added to Epilepsy Pluspanel. Source: UKGTN SCN2A was added to Epilepsy Pluspanel. Source: Expert SCN2A was added to Epilepsy Pluspanel. Source: Expert Review Green Model of inheritance for gene SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SCN2A was created by ellenmcdonagh

8 Sep 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN2A was added to Epilepsy Pluspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen