Familial cicatricial alopeciaGene: ITGB4
Comment on list classification: Kept rating as Red: there is no direct evidence for the role of ITGB4 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.
20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia; EB-PA; scarring alopecia; Epidermolysis bullosa, junctional, with pyloric atresia, 226730
ITGB4 was added to Familial cicatricial alopeciapanel. Sources: Other
ITGB4 was created by rfoulger