Arrhythmogenic right ventricular cardiomyopathy
Gene: JUPEnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 11 panels
7 reviews
Ivone Leong (Genomics England Curator)
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
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
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
Rebecca Whittington (South West GLH)
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
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.
James Eden (Manchester)
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
Bill Newman (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
- North West GLH
- Expert Review Green
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Naxos disease, OMIM:601214
- Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
- OMIM
- 173325
- Clinvar variants
- Variants in JUP
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to JUP.
Added New Source, Set Phenotypes, Set publications, Status Update
Ellen McDonagh (Genomics England Curator)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)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene JUP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene JUP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene JUP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)JUP was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list