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Arrhythmogenic cardiomyopathy v1.45 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.36 JUP Matthew Edwards reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: Arrhythmogenic right ventricular dysplasia 12, Naxon disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.23 JUP Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214)
Arrhythmogenic cardiomyopathy v1.22 JUP Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Lots of evidence on HGMDPro for ARVC. NO pathogenic variants reported at BGL- only C3s.
Arrhythmogenic cardiomyopathy v1.21 JUP Rebecca Whittington reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.20 JUP Ellen McDonagh Source South West GLH was added to JUP.
Mode of inheritance for gene JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic cardiomyopathy v1.19 JUP Ellen McDonagh reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.18 JUP Ellen McDonagh Source London South GLH was added to JUP.
Arrhythmogenic cardiomyopathy v1.17 JUP James Eden reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 12 (611528), Naxos disease (601214); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.16 JUP Ellen McDonagh Source North West GLH was added to JUP.
Added phenotypes Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214) for gene: JUP
Publications for gene JUP were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)