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Research panel - 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 14 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
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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SCN8A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Epileptic encephalopathy, early infantile, 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SCN8A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SCN8A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SCN8A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SCN8A was added gene: SCN8A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCN8A was set to