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Severe Paediatric Disorders

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 15 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: SCN1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3) | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3) | Febrile seizures, familial, 3A, 604403 (3) | Migraine, familial hemiplegic, 3, 609634 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | 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
  • Epilepsy, generalized, with febrile seizures plus, type 2, 604403
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208
  • Migraine, familial hemiplegic, 3, 609634
  • Febrile seizures, familial, 3A, 604403
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
None
Publications
Panels with this gene