Dilated Cardiomyopathy and conduction defects

Gene: JUP

Red List (low evidence)

JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 12 panels

3 reviews

Rebecca Whittington (South West GLH)

I don't know

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

Ellen McDonagh (Genomics England Curator)

I don't know

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.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to JUP.

14 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

JUP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list