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Short QT syndrome v1.4 RYR2 James Eden reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 (600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.3 RYR2 Ellen McDonagh Source North West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2
Publications for gene RYR2 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v0.2 RYR2 Sarah Leigh gene: RYR2 was added
gene: RYR2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: RYR2 was set to Unknown