Sudden cardiac death - previous panel
Gene: SCN4BEnsemblGeneIds (GRCh38): ENSG00000177098
EnsemblGeneIds (GRCh37): ENSG00000177098
OMIM: 608256, Gene2Phenotype
SCN4B is in 3 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 9 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
Long QT syndrome-10
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
-
- London South GLH
- North West GLH
- Expert Review Red
- London South GLH
- North West GLH
- Expert Review Red
- Phenotypes
-
- Long QT syndrome-10
- OMIM
- 608256
- Clinvar variants
- Variants in SCN4B
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: SCN4B was added gene: SCN4B was added to Sudden cardiac death. Sources: Expert Review Red,North West GLH,London South GLH Mode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN4B were set to 17592081; 19862833; 16301704; 30420954 Phenotypes for gene: SCN4B were set to Long QT syndrome-10 Mode of pathogenicity for gene: SCN4B was set to Other