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Epileptic encephalopathy

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

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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

History Filter Activity

21 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jan 2016, Gel status: 4

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

21 Jan 2016, Gel status: 4

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

21 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SCN8A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN8A was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 3

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 3

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

1 Jul 2015, Gel status: 3

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

1 Jul 2015, Gel status: 2

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

1 Jul 2015, Gel status: 2

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

1 Jul 2015, Gel status: 1

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