Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Dilated and arrhythmogenic cardiomyopathy v1.33 | JUP | Arina Puzriakova Phenotypes for gene: JUP were changed from Naxos disease (601214); Arrhythmogenic right ventricular dysplasia 12; Arrhythmogenic right ventricular dysplasia 12 (611528) to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.52 | JUP | Ivone Leong commented on gene: JUP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.44 | JUP | Matthew Edwards reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.37 | JUP | Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.36 | JUP |
Ivone Leong gene: JUP was added gene: JUP was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: JUP were set to 23500315; 27532257 Phenotypes for gene: JUP were set to Naxos disease (601214); Arrhythmogenic right ventricular dysplasia 12; Arrhythmogenic right ventricular dysplasia 12 (611528) |