Epidermolysis bullosa and congenital skin fragility
Gene: ITGB4Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Epidermolysis bullosa, junctional, with pyloric atresia, 226730;Epidermolysis bullosa with pyloric atresiaCreated: 24 Mar 2021, 11:32 a.m. | Last Modified: 24 Mar 2021, 11:32 a.m.
Panel Version: 1.23
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.
Phenotypes for gene: ITGB4 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia to Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650; Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
gene: ITGB4 was added gene: ITGB4 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGB4 were set to 18348258; 10792571; 7545057; 10484780 Phenotypes for gene: ITGB4 were set to Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia