Brugada syndrome and cardiac sodium channel disease

Gene: PKP2

Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 9 (609040), Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy

Created: 2 Mar 2021, 11:57 a.m. | Last Modified: 2 Mar 2021, 11:57 a.m.

Panel Version: 2.19

Red List (low evidence)

Arrhythmogenic right ventricular dysplasia 9 (OMIM 609040)

Created: 25 Mar 2019, 4:30 p.m.

Gene mainly associated with ARVC. NO strong evidence for Brugada - only 1 publication. PMID:24352520

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date in Brugada patients. 292 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome, definitive association with arrhythmogenic right ventricular dysplasia 9 (accessed 29/01/2019).

Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arrhythmogenic right ventricular dysplasia 9 (609040)

Publications

• 27085656
• 27761167

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

Red List (low evidence)

This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10156

Created: 20 Feb 2019, 2:47 p.m.

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.

On the Inherited Cardiac Condition Genes panel for Brugada syndrome reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 5.

Created: 19 Feb 2016, 11:27 a.m.

Mode of inheritance
Disputed

Phenotypes
Brugada syndrome 1; MONDO_0011001