Short QT syndrome

Gene: SCN1B

Red List (low evidence)

SCN1B (sodium voltage-gated channel beta subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 9 panels

1 review

James Eden (Manchester)

Red List (low evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
Phenotypes
  • Cardiac conduction defect, nonspecific (612838)
  • Atrial fibrillation, familial, 13 (615377)
  • Brugada syndrome 5 (612838)
  • 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

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to SCN1B. Added phenotypes Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Brugada syndrome 5 (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) for gene: SCN1B Publications for gene SCN1B were changed from to 30420954; 19862833; 16301704

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: This is a very recent report.

15 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: SCN1B was added gene: SCN1B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7) Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown