Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CYBBEnsemblGeneIds (GRCh38): ENSG00000165168
EnsemblGeneIds (GRCh37): ENSG00000165168
OMIM: 300481, Gene2Phenotype
CYBB is in 8 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:32 a.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reportedCreated: 5 Sep 2016, 6:48 a.m.
Comment on phenotypes: Variants also reported in Immunodeficiency 34, mycobacteriosis, X-linked 300645Created: 2 Sep 2016, 2:59 p.m.
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
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Chronic granulomatous disease, X-linked 306400
- Tags
- OMIM
- 300481
- Clinvar variants
- Variants in CYBB
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CYBB were set to Chronic granulomatous disease, X-linked 306400
Upload gene information
Sarah Leigh (Genomics England Curator)CYBB was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CYBB were set to Chronic granulomatous disease, X-linked 306400
Created
Ellen McDonagh (Genomics England Curator)CYBB was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CYBB was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list