Arrhythmogenic right ventricular cardiomyopathy
Gene: 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, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45
On CGGL Royal Brompton ACM panel (although only VUS reported so far). Definitive ARVC geneCreated: 18 Sep 2019, 9:59 p.m. | Last Modified: 18 Sep 2019, 9:59 p.m.
Panel Version: 1.36
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
OMIM: Arrhythmogenic right ventricular dysplasia 12; Naxon disease (AR)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214)Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Lots of evidence on HGMDPro for ARVC. NO pathogenic variants reported at BGL- only C3s.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.
Gene currently tested on Manchester cardiac gene panel. 48 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JUP were changed from Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12 , OMIM:611528 to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 ; Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214) to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12 , OMIM:611528
Source South West GLH was added to JUP. Mode of inheritance for gene JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to JUP.
Source North West GLH was added to JUP. Added phenotypes Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214) for gene: JUP Publications for gene JUP were changed from to 27532257; 23500315 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN
Model of inheritance for gene JUP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene JUP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene JUP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list