Molecular autopsy
Gene: PKP2
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.
Gene currently tested on Manchester cardiac gene panel. 292 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with arrhythmogenic right ventricular dysplasia 9, 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
Arrhythmogenic right ventricular dysplasia 9 (609040)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to PKP2.
Source North West GLH was added to PKP2. Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2 Publications for gene PKP2 were changed from 24352520; 26888179; doi:10. 1007/ s12265-016-9673-5 to 27532257; 27761167; 23500315; 27085656; 19862833; 16301704; 30420954
Added phenotypes Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy; Brugada syndrome for gene: PKP2 Publications for gene PKP2 were changed from to 24352520; 26888179; doi:10. 1007/ s12265-016-9673-5
gene: PKP2 was added gene: PKP2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy