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  2. Chronic granulomatous disease
  3. CYBA
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Chronic granulomatous disease

Gene: CYBA

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 2 Apr 2021, 6:48 a.m. | Last Modified: 2 Apr 2021, 6:48 a.m.
Panel Version: 0.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic granulomatous disease 4, autosomal recessive, MIM# 233690; MONDO:0009308

Publications

Created: 2 Apr 2021, 6:48 a.m.
Last Modified: 2 Apr 2021, 6:48 a.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA MIM#233690
OMIM
608508
Clinvar variants
Variants in CYBA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYBA were set to

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CYBA was added gene: CYBA was added to Chronic granulomatous disease. Sources: Expert list Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA MIM#233690