Short QT syndrome
Gene: SCN3B
SCN3B (sodium voltage-gated channel beta subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000166257
EnsemblGeneIds (GRCh37): ENSG00000166257
OMIM: 608214, Gene2Phenotype
SCN3B is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000166257
EnsemblGeneIds (GRCh37): ENSG00000166257
OMIM: 608214, Gene2Phenotype
SCN3B is in 2 panels
1 review
James Eden (Manchester)
Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 7 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
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)
- OMIM
- 608214
- Clinvar variants
- Variants in SCN3B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
14 Feb 2019, Gel status: 1
Added New Source, Set publications
Ellen McDonagh (Genomics England Curator)Source North West GLH was added to SCN3B. Publications for gene SCN3B 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: SCN3B was added gene: SCN3B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7) Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown