Brugada syndrome

Gene: SCN5A

Green List (high evidence)

Definitive by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)

Created: 31 May 2020, 12:42 p.m. | Last Modified: 31 May 2020, 12:42 p.m.

Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brugada syndrome

Publications

• PMID: 29959160

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

Green List (high evidence)

SSS1 was found in three families in a 2003 paper (OMIM), some het carriers showed subclinical cardiac features, some variants previously reported in association with dominant cardiac disorders.

- Long QT and atrial fibrillation caused by GOF missense variants (PMID: 29806494).

No other clear genotype-phenotype correlation, majority of mutations are LOF causing Brugada syndrome (PMID: 29806494).

missense variants cause both loss and gain of function, some variants do both.

Created: 7 Feb 2020, 5:55 a.m. | Last Modified: 7 Feb 2020, 5:55 a.m.

Panel Version: 0.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Atrial fibrillation, familial, 10; Brugada syndrome 1; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Heart block, progressive, type IA; Long QT syndrome 3; Sick sinus syndrome 1; Ventricular fibrillation, familial, 1; {Sudden infant death syndrome, susceptibility to}

Publications

• PMID: 29806494
• 18929244

Mode of pathogenicity
Other