1. Panels
  2. Familial Genetic Generalised Epilepsies
  3. SCN1B
STRs in panel
Prev Next
Regions in panel
Prev Next

Familial Genetic Generalised Epilepsies

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 8 panels

2 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Evidence of pathogenicity exists for M_001037.4(SCN1B):c.363C>G (p.Cys121Trp); few if any other variants have sufficient evidence for pathogenicity currently
Created: 8 May 2016, 7:11 p.m.
Created: 8 May 2016, 7:11 p.m.

Panel version: 0.14

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Evidence of pathogenicity exists for M_001037.4(SCN1B):c.363C>G (p.Cys121Trp); few if any other variants have sufficient evidence for pathogenicity currently
Created: 8 May 2016, 6:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
604233

Publications

Created: 8 May 2016, 6:24 p.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 1
  • 604233
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Aug 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;604233

24 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCN1B were set to 16205844; 9697698

24 Aug 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

8 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SCN1B was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen