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Additional findings_Paediatric

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease
OMIM
608508
Clinvar variants
Variants in CYBA
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Chronic granulomatous disease for gene: CYBA

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYBA was added gene: CYBA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYBA were set to Chronic granulomatous disease