Familial cicatricial alopecia
Gene: CYBBComment when marking as ready: Marked CYBB as ready: July 13th 2017.Created: 13 Jul 2017, 6:52 a.m.
Comment on list classification: Kept rating as Red: No direct evidence for role of CYBB in scarring alopecia.Created: 13 Jul 2017, 6:52 a.m.
Comment on mode of inheritance: Changed MOI from 'hemizygous, biallaleic in females' to 'hemizygous, monoallelic in females' because it's the carrier status of CGD that is associated with discoid lupus erythematosus(which in turn can be a cause of scarring alopecia).Created: 13 Jul 2017, 6:51 a.m.
Familial discoid lupus erythematosus (DLE) is a cause of scarring(cicatricial) alopecia (PMID:18715293). DLE is reported to be associated with the Chronic granulomatous disease/CGD carrier state.Created: 13 Jul 2017, 6:49 a.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).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for CYBB was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
CYBB was created by rfoulger
CYBB was added to Familial cicatricial alopeciapanel. Sources: Other