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Short QT syndrome v1.4 PKP2 James Eden reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.3 PKP2 Ellen McDonagh 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
Short QT syndrome v0.20 PKP2 Sarah Leigh Publications for gene: PKP2 were set to 24352520; 26888179
Short QT syndrome v0.19 PKP2 Sarah Leigh Publications for gene: PKP2 were set to
Short QT syndrome v0.4 PKP2 Sarah Leigh reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 24352520, 26888179; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v0.2 PKP2 Sarah Leigh 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