Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CYBBAdded 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.
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Phenotypes for CYBB were set to Chronic granulomatous disease, X-linked 306400
CYBB was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene CYBB were set to Chronic granulomatous disease, X-linked 306400
CYBB was created by ellenmcdonagh
CYBB was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list