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  3. CYBB
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Cataract

Gene: CYBB

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

1 review

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

Cataracts are not a typical feature of these conditions (OMIM; Gene Reviews)
Created: 22 Mar 2020, 11:02 p.m. | Last Modified: 22 Mar 2020, 11:02 p.m.
Panel Version: 0.33

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Chronic granulomatous disease; immunodeficiency 34 with mycobacteriosis

Created: 22 Mar 2020, 11:02 p.m.
Last Modified: 22 Mar 2020, 11:02 p.m.
Panel version: 0.33

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease
  • immunodeficiency 34 with mycobacteriosis
OMIM
300481
Clinvar variants
Variants in CYBB
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cybb has been classified as Red List (Low Evidence).

23 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease; immunodeficiency 34 with mycobacteriosis

23 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

23 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cybb has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYBB was added gene: CYBB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYBB was set to Unknown