Epileptic encephalopathy
Gene: SCN8AEnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cognitive impairment with or without cerebellar ataxia; Intellectual disability; Epileptic encephalopathy, early infantile, 13
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
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cognitive impairment with or without cerebellar ataxia; Intellectual disability; Epileptic encephalopathy, early infantile, 13
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
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cognitive impairment with or without cerebellar ataxia; Intellectual disability; Epileptic encephalopathy, early infantile, 13
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
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cognitive impairment with or without cerebellar ataxia; Intellectual disability; Epileptic encephalopathy, early infantile, 13
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
Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance confirmed. Mutation consequence summary from G2P is dominant negative.Created: 21 Jan 2016, 12:53 p.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.Created: 21 Jan 2016, 11:57 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SCN8A were set to Cognitive impairment with or without cerebellar ataxia; Intellectual disability; Epileptic encephalopathy, early infantile, 13
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SCN8A were set to 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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SCN8A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SCN8A was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCN8A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SCN8A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCN8A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SCN8A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)SCN8A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN