Cardiomyopathies - including childhood onsetGene: JUP
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Arrhythmogenic right ventricular dysplasia 12 OMIM#611528;Naxos disease OMIM#601214
Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Lots of evidence on HGMDPro for ARVC. Paediatric onset is rare: Christiensen J Med Genet 2010;47:736e744 (age range 2-62 with mainly adult onset)
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to JUP.
gene: JUP was added gene: JUP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12