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Epileptic encephalopathy

Gene: SCN1B

Green List (high evidence)

SCN1B (sodium voltage-gated channel beta subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 11 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
Epilepsy, generalized, with febrile seizures plus, type 1

Publications

  • Wallace et al (2002) Neurology 58: 1426-1429

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
Epilepsy, generalized, with febrile seizures plus, type 1

Publications

  • Wallace et al (2002) Neurology 58: 1426-1429

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
Epilepsy, generalized, with febrile seizures plus, type 1

Publications

  • Wallace et al (2002) Neurology 58: 1426-1429

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, imprinted status unknown

Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1

Publications

  • Wallace et al (2002) Neurology 58: 1426-1429

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 and loss-of-function mechanism confirmed.
Created: 21 Jan 2016, 11:52 a.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.
Created: 21 Jan 2016, 11:51 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 1
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
Complete
Publications
  • Wallace et al (2002) Neurology 58: 1426-1429
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 SCN1B were set to Epilepsy, generalized, with febrile seizures plus, type 1

21 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCN1B were set to Wallace et al (2002) Neurology 58: 1426-1429

21 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SCN1B 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)

SCN1B was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Epileptic encephalopathypanel. Sources: Expert