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  3. CYBA
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Cataract

Gene: CYBA

Red List (low evidence)
CYBA (cytochrome b-245 alpha chain)
EnsemblGeneIds (GRCh38): ENSG00000051523
EnsemblGeneIds (GRCh37): ENSG00000051523
OMIM: 608508, Gene2Phenotype
CYBA is in 11 panels

1 review

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

Cataracts are not a typical feature of this condition (OMIM, Gene Reviews)
Created: 22 Mar 2020, 10:58 p.m. | Last Modified: 22 Mar 2020, 10:58 p.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic granulomatous disease

Created: 22 Mar 2020, 10:58 p.m.
Last Modified: 22 Mar 2020, 10:58 p.m.
Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease
OMIM
608508
Clinvar variants
Variants in CYBA
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: cyba 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: CYBA were changed from to Chronic granulomatous disease

23 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

23 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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