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Severe Paediatric Disorders

Gene: SCN8A

Green List (high evidence)

SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A 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: SCN8A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cognitive impairment with or without cerebellar ataxia, 614306 (3) | Epileptic encephalopathy, early infantile, 13, 614558 (3) | ?Myoclonus, familial, 2, 618364 (3) | Seizures, benign familial infantile, 5, 617080 (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
  • Epileptic encephalopathy, early infantile, 13, 614558
  • ?Myoclonus, familial, 2, 618364
  • Cognitive impairment with or without cerebellar ataxia, 614306
  • Seizures, benign familial infantile, 5, 617080
OMIM
600702
Clinvar variants
Variants in SCN8A
Penetrance
None
Publications
Panels with this gene