1. Panels
  2. Genetic Epilepsies with Febrile Seizures Plus (GEFS+)
  3. SCN1B
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Genetic Epilepsies with Febrile Seizures Plus (GEFS+)

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

1 review

Richard Scott (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: See comment re caution re majority of variants: 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, 6:58 p.m.
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, 6:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 8 May 2016, 6:55 p.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Generalized Epilepsy with Febrile Seizures Plus
  • Epilepsy, generalized, with febrile seizures plus, type 1
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
Complete
Panels with this gene

History Filter Activity

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).

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: 2

Added New Source

Eik Haraldsdottir (Genomics England)

SCN1B was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SCN1B was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Illumina TruGenome Clinical Sequencing Services