Epidermolysis bullosa and congenital skin fragility
Gene: ITGA6Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa with pyloric atresia;Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;generalised intermediate junctional Epidermolysis bullosaCreated: 24 Mar 2021, 11:31 a.m. | Last Modified: 24 Mar 2021, 11:31 a.m.
Panel Version: 1.22
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.
Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
gene: ITGA6 was added gene: ITGA6 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA6 were set to 27186702; 9185503; 26739954; 26817667 Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa