Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CYBAEnsemblGeneIds (GRCh38): ENSG00000051523
EnsemblGeneIds (GRCh37): ENSG00000051523
OMIM: 608508, Gene2Phenotype
CYBA is in 4 panels
3 reviews
Neil shah (GOSH)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Rated green by Neil Shah (GOSH), and numerous cases with different variants reported in OMIM for the Chronic granulomatous disease, autosomal, due to deficiency of CYBA phenotype.Created: 10 Oct 2016, 2:25 p.m.
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690
- OMIM
- 608508
- Clinvar variants
- Variants in CYBA
- Penetrance
- Complete
- Publications
-
- 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
- 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 publications
Ellen McDonagh (Genomics England Curator)Publications for CYBA were set to 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CYBA were set to 27537055
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CYBA 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 CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690
Created
Ellen McDonagh (Genomics England Curator)CYBA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CYBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list