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  3. CYBB
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Ectodermal dysplasia

Gene: CYBB

Red List (low evidence)
CYBB (cytochrome b-245 beta chain)
EnsemblGeneIds (GRCh38): ENSG00000165168
EnsemblGeneIds (GRCh37): ENSG00000165168
OMIM: 300481, Gene2Phenotype
CYBB is in 8 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.
Created: 13 Jul 2017, 6:49 a.m.

Panel version: Imported from Familial cicatricial alopecia panel version 0.16

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
Phenotypes
  • CGD
  • Chronic granulomatous disease, X-linked, 306400
  • discoid lupus erythematosus
OMIM
300481
Clinvar variants
Variants in CYBB
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CYBB was added gene: CYBB was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CYBB were set to CGD; Chronic granulomatous disease, X-linked, 306400; discoid lupus erythematosus