Familial cicatricial alopecia

Gene: CYBB

Red List (low evidence)

CYBB (cytochrome b-245 beta chain)
EnsemblGeneIds (GRCh38): ENSG00000165168
EnsemblGeneIds (GRCh37): ENSG00000165168
OMIM: 300481, Gene2Phenotype
CYBB is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment 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.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Chronic granulomatous disease, X-linked, 306400
  • CGD
  • discoid lupus erythematosus
OMIM
300481
Clinvar variants
Variants in CYBB
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Jul 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

13 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

13 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

13 Jul 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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)

22 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CYBB was created by rfoulger

22 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CYBB was added to Familial cicatricial alopeciapanel. Sources: Other