Defects of intrinsic and innate immunity
Gene: CYBB

CYBB (cytochrome b-245 beta chain)
EnsemblGeneIds (GRCh38): ENSG00000165168
EnsemblGeneIds (GRCh37): ENSG00000165168
OMIM: 300481, Gene2Phenotype
CYBB is in 12 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

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

Phenotypes
Susceptibility to mycobacterial disease

Publications

PMID: 21278736

Created: 27 Oct 2022, 3:39 a.m.
Last Modified: 27 Oct 2022, 3:39 a.m.
Panel version: Imported from Mendelian susceptibility to Immune Disorders panel version 0.34

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 100 families reported.
Created: 24 Jul 2021, 6:58 a.m. | Last Modified: 24 Jul 2021, 6:58 a.m.

Panel Version: 0.15

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

Phenotypes
Chronic granulomatous disease, X-linked, MIM# 306400

Publications

Created: 24 Jul 2021, 6:58 a.m.
Last Modified: 24 Jul 2021, 6:58 a.m.
Panel version: Imported from Phagocyte Defects panel version Imported from Chronic granulomatous disease panel version 0.15

Details

Mode of Inheritance

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

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Chronic granulomatous disease, X-linked, MIM# 306400

OMIM

300481

Clinvar variants

Variants in CYBB

Penetrance

None

Publications

Panels with this gene