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Severe Paediatric Disorders

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 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SCN2A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epileptic encephalopathy, early infantile, 11, 613721 (3) | Seizures, benign familial infantile, 3, 607745 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 11, 613721
  • Seizures, benign familial infantile, 3, 607745
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise