Dilated Cardiomyopathy and conduction defectsGene: JUP
Arrhythmogenic right ventricular dysplasia 12 OMIM#611528; Naxos disease OMIM#601214
Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Five variants assoc with DCM on HGMD they all have some freq - though 4 are <4 alleles on GnomAD, references include Walsh 2017 and Haas 2015 . Lots of evidence on HGMDPro for ARVC.
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
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Source South West GLH was added to JUP. Mode of inheritance for gene JUP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to JUP.
JUP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list