Epidermolysis bullosa and congenital skin fragility
Gene: JUPEnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214Created: 24 Mar 2021, 11:34 a.m. | Last Modified: 24 Mar 2021, 11:34 a.m.
Panel Version: 1.24
John McGrath (King's College London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe generalised Epidermolysis bullosa simplex
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed status from amber to green based on expert reviewer suggestion and evidence in the literatureCreated: 24 Apr 2017, 12:34 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases : Naxos disease (includes the phenotype skin fragility)Created: 24 Apr 2017, 12:33 p.m.
Comment on mode of inheritance: added MOI from OMIM, literature and expert reviewerCreated: 24 Apr 2017, 12:22 p.m.
Comment on phenotypes: added phenotypes from OMIM and expert reviewer. Naxos disease includes phenotype skin fragilityCreated: 24 Apr 2017, 12:20 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Naxos disease, OMIM:601214
- Generalised skin fragility, epidermolysis bullosa
- OMIM
- 173325
- Clinvar variants
- Variants in JUP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Palmoplantar keratodermas
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy
- Epidermolysis bullosa and congenital skin fragility
- Hereditary neuropathy or pain disorder
- Ichthyosis and erythrokeratoderma
- Epidermolysis bullosa
- Dilated Cardiomyopathy and conduction defects
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex to Naxos disease, OMIM:601214; Generalised skin fragility, epidermolysis bullosa
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: JUP was added gene: JUP was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JUP were set to 20130592; 19067702; 10902626; 21668431 Phenotypes for gene: JUP were set to Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214