Familial cicatricial alopeciaGene: PLEC
Comment on list classification: Kept rating as Red. Emory report that the 3 genes known to be associated with Epodermolysis Bullosa with Pyloric Atresia (EB-PA) are ITGB4, ITGA6 and PLEC. Features of EB-PA include scarring (cicatricial) alopecia but there is no direct evidence for the role of PLEC in this condition.
Created: 13 Jul 2017, 1:58 p.m.
Mode of inheritance is taken from OMIM: M.O.I for Ogna type Epidermolysis bullosa simplex (OMIM:131950) is autosomal dominant, whereas autosomal recessive inheritance is recorded for all other listed Epidermolysis bullosa forms.
Created: 22 Nov 2016, 4:52 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).
PLEC was created by rfoulger
PLEC was added to Familial cicatricial alopeciapanel. Sources: Emory Genetics Laboratory