Epidermolysis bullosa
Gene: ITGA6
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 review and evidence in recent publications (OMIM entry last updated 2013)Created: 19 Apr 2017, 3:17 p.m.
Comment on publications: Added publications to support number of cases to date (more than three) with Epidermolysis bullosa junctionalis with pyloric atresia caused by variants of ITGA6Created: 19 Apr 2017, 3:13 p.m.
Comment on phenotypes: amended format issue and added phenotypes suggested by reviewerCreated: 19 Apr 2017, 2:26 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 ITGA6 were set to 9185503; 27186702; 26739954;26817667
Publications for ITGA6 were set to 9185503; 27186702; 26739954
Phenotypes for ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa with pyloric atresia; generalised intermediate junctional Epidermolysis bullosa
ITGA6 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
ITGA6 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
ITGA6 was created by ellenmcdonagh
ITGA6 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing