This Panel is marked as Retired
Epilepsy Plus
Gene: SCN8A
SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Phenotypes
-
- Cognitive impairment with or without cerebellar ataxia
- Intellectual disability
- Epileptic encephalopathy, early infantile, 13
- OMIM
- 600702
- Clinvar variants
- Variants in SCN8A
- Penetrance
- Complete
- Publications
-
- Trudeau et al (2004) J Med Genet 43: 527_530
- O'Brien and Meisler (2013) Frontiers in Genet 4(213): 1-9
- Veeramah et al (2012) Am J Hum Genet 90: 502_510
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SCN8A was added to Epilepsy Pluspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SCN8A was created by ellenmcdonagh