Epidermolysis bullosaGene: JUP
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
severe generalised Epidermolysis bullosa simplex
Comment on list classification: Changed status from amber to green based on expert reviewer suggestion and evidence in the literature
Created: 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 reviewer
Created: 24 Apr 2017, 12:22 p.m.
Comment on phenotypes: added phenotypes from OMIM and expert reviewer. Naxos disease includes phenotype skin fragility
Created: 24 Apr 2017, 12:20 p.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for JUP were set to 10902626;20130592;21668431;19067702
JUP was added to Epidermolysis bullosapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for JUP was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for JUP were set to Naxos disease, 601214; Severe generalised Epidermolysis bullosa simplex
JUP was created by ellenmcdonagh
JUP was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing