Chronic granulomatous disease
Gene: CYBBEnsemblGeneIds (GRCh38): ENSG00000165168
EnsemblGeneIds (GRCh37): ENSG00000165168
OMIM: 300481, Gene2Phenotype
CYBB is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chronic granulomatous disease, X-linked MIM#306400
- OMIM
- 300481
- Clinvar variants
- Variants in CYBB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cybb has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CYBB were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cybb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CYBB was added gene: CYBB was added to Chronic granulomatous disease. Sources: Expert list Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked MIM#306400