Epidermolysis bullosa
Gene: ITGB4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa with pyloric atresia; generalised intermediate junctional Epidermolysis bullosa
Comment on list classification: changed status from amber to green due to expert reviewCreated: 20 Apr 2017, 10:56 a.m.
Comment on publications: Added publications with evidence for cases with Epidermolysis bullosa, junctional, with pyloric stenosis PMID: 10484780,7545057,18348258. Epidermolysis bullosa, junctional, non-Herlitz type PMID:10792571Created: 20 Apr 2017, 10:56 a.m.
Comment on phenotypes: Added phenotypes suggested by reviewer and reformatted the orderCreated: 20 Apr 2017, 8:27 a.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 ITGB4 were set to 10484780;7545057;18348258;10792571
Phenotypes for ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Generalised intermediate junctional Epidermolysis bullosa
Phenotypes for ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia (AR), 226730; Epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, non-Herlitz type (AR), 226650; Generalised intermediate junctional Epidermolysis bullosa
Mode of inheritance for ITGB4 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for ITGB4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa of hands and feet, 131800
ITGB4 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
ITGB4 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
ITGB4 was created by ellenmcdonagh
ITGB4 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing