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  3. SCN1B
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Sudden cardiac death - previous panel

Gene: SCN1B

Amber List (moderate 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

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Molecular autopsy panel version 0.86

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 31 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Atrial fibrillation, familial, 13 (615377); Brugada syndrome 5 (612838); Cardiac conduction defect, nonspecific (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233); Epileptic encephalopathy, early infantile, 52 (617350)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: Imported from Molecular autopsy panel version 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • North West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Brugada syndrome 5 (612838)
  • Brugada syndrome 5
  • Cardiac conduction defect, nonspecific
  • Nonspecific Cardiac Conduction Defect
  • Cardiac conduction defect, nonspecific (612838)
  • Atrial fibrillation, familial, 13 (615377)
  • Epileptic encephalopathy, early infantile, 52 (617350)
  • Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: scn1b has been classified as Amber List (Moderate Evidence).

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SCN1B was added gene: SCN1B was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1B were set to 25253298; 27761167 Phenotypes for gene: SCN1B were set to Brugada syndrome 5 (612838); Brugada syndrome 5; Cardiac conduction defect, nonspecific; Nonspecific Cardiac Conduction Defect; Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Epilepsy, generalized, with febrile seizures plus, type 1 (604233)