Familial cicatricial alopeciaGene: ABCA12
Comment on list classification: Kept rating as Red: Although some people affected with autosomal recessive congenital ichthyosis (ARCI) may exhibit cicatricial (scarring) alopecia, there is no direct evidence for the role of ABCA12.
Created: 13 Jul 2017, 1:36 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 ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277; Ichthyosis, autosomal recessive 4B (harlequin), 242500; Lamellar ichthyosis; Some affected persons exhibit scarring alopecia
ABCA12 was added to Familial cicatricial alopeciapanel. Sources: Other
ABCA12 was created by rfoulger