Ectodermal dysplasiaGene: ITGA6
Comment on list classification: Kept rating as Red: there is no direct evidence for the role of ITGA6 in cicatricial/scarring alopecia.
Created: 13 Jul 2017, 1:41 p.m.
Emory report that the three genes known to be associated with Epodermolysis Bullosa with Pyloric Atresia (EB-PA) are ITGB4, ITGA6 and PLEC. Emory isn't cited as a source for ITGB4 and ITGA6 in PanelApp because the Emory gene test is for PLEC only. Features of EB-PA include scarring (cicatricial) alopecia.
Created: 22 Nov 2016, 4:50 p.m.
gene: ITGA6 was added gene: ITGA6 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA6 were set to 20301336 Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia; EB-PA; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; scarring alopecia