Dilated Cardiomyopathy and conduction defects
Gene: JUP
JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 11 panels
3 reviews
Rebecca Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 12 OMIM#611528; Naxos disease OMIM#601214Created: 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)
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)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- London South GLH
- Expert list
- Phenotypes
-
- Naxos disease, OMIM:601214
- Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
- OMIM
- 173325
- Clinvar variants
- Variants in JUP
- Penetrance
- Complete
- Panels with this gene
-
- Arrhythmogenic right ventricular cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Palmoplantar keratodermas
- Hereditary neuropathy
- Epidermolysis bullosa and congenital skin fragility
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Epidermolysis bullosa
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
History Filter Activity
10 Oct 2022, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: JUP were changed from to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
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