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Prepair 1000+

Gene: CYBB

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association, more than 100 families reported.

Childhood onset. Presents with recurrent infections.
Created: 15 Oct 2024, 5:27 a.m. | Last Modified: 15 Oct 2024, 5:27 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Oct 2024, 5:27 a.m.
Last Modified: 15 Oct 2024, 5:27 a.m.
Panel version: 1.420

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chronic granulomatous disease, X-linked, 306400 (3)
OMIM
300481
Clinvar variants
Variants in CYBB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: cybb has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CYBB were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Chronic granulomatous disease, X-linked, 306400 (3) for gene: CYBB

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYBB was added gene: CYBB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 306400 (3)