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Arrhythmogenic cardiomyopathy v1.45 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.36 PKP2 Matthew Edwards reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: Arrhythmogenic right ventricular dysplasia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.23 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (609040)
Arrhythmogenic cardiomyopathy v1.22 PKP2 Rebecca Whittington commented on gene: PKP2: PubMED: 29567486 - core gene. Lots of reports on HGMDPro assoc with ARVC /Brugada- strong evidence with this. Class5 variants reported at BGL assoc with arrhythmia.
Arrhythmogenic cardiomyopathy v1.21 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.20 PKP2 Ellen McDonagh Source South West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.19 PKP2 Ellen McDonagh reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.18 PKP2 Ellen McDonagh Source London South GLH was added to PKP2.
Arrhythmogenic cardiomyopathy v1.17 PKP2 James Eden reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.16 PKP2 Ellen McDonagh 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 to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)