Short QT syndromeGene: PKP2
Gene currently tested by alternative panel, very few short QT referrals to date. 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
Arrhythmogenic right ventricular dysplasia 9 (609040)
Variants in this GENE are reported as part of current diagnostic practice
Source North West GLH was added to PKP2. Mode of inheritance for gene PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2 Publications for gene PKP2 were changed from 24352520; 26888179 to 30420954; 19862833; 16301704
Sarah Leigh: Not associated with Short QT p
Publications for gene: PKP2 were set to 24352520; 26888179
Publications for gene: PKP2 were set to
gene: PKP2 was added gene: PKP2 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7) Mode of inheritance for gene: PKP2 was set to Unknown