Brugada syndrome
Gene: SCN3B

SCN3B (sodium voltage-gated channel beta subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000166257
EnsemblGeneIds (GRCh37): ENSG00000166257
OMIM: 608214, Gene2Phenotype
SCN3B is in 4 panels

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)
Created: 31 May 2020, 12:45 p.m. | Last Modified: 31 May 2020, 12:45 p.m.

Panel Version: 0.13

Phenotypes
Brugada syndrome

Publications

PMID: 29959160

Created: 31 May 2020, 12:45 p.m.
Last Modified: 31 May 2020, 12:45 p.m.
Panel version: 0.13

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

This validity of this gene disease association has been disputed by the ClinGen Brugada syndrome GCEP. See details here: https://search.clinicalgenome.org/kb/gene-validity/10160
Created: 12 May 2020, 6:47 a.m. | Last Modified: 12 May 2020, 6:47 a.m.

Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brugada syndrome 7 MIM#613120

Created: 12 May 2020, 6:47 a.m.
Last Modified: 12 May 2020, 6:47 a.m.
Panel version: 0.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Brugada syndrome 7 MIM#613120

Tags

disputed

OMIM

608214

Clinvar variants

Variants in SCN3B

Penetrance

None

Panels with this gene