Newborns main panel
Gene: CYBB

CYBB (cytochrome b-245 beta chain)
EnsemblGeneIds (GRCh38): ENSG00000165168
EnsemblGeneIds (GRCh37): ENSG00000165168
OMIM: 300481, Gene2Phenotype
CYBB is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update) - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

MOI reviewed by clinical team. Mafalda Gomes comment: Females who are heterozygous for a CYBB pathogenic variant are typically not affected with CGD, as the amount of gp91phox protein produced by their second (normal) CYBB allele allows adequate superoxide production and protection from CGD-related infections. Neutrophils from heterozygous females express two populations that dihydrorhodamine (DHR) testing can detect: an abnormal DHR(-) population expressing the pathogenic variant and a brightly staining DHR (+) population expressing the normal allele. Skewed (non-random) X-chromosome inactivation can result in low %DHR+ neutrophil population because the CYBB disease-causing allele is primarily expressed.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.

Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Chronic granulomatous disease x-linked

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green

Phenotypes

Chronic granulomatous disease x-linked

OMIM

300481

Clinvar variants

Variants in CYBB

Penetrance

None

Panels with this gene