Gastrointestinal epithelial barrier disorders
Gene: CYBBComment on list classification: With expert review, previous curation and existence of this gene in the main sources, variants in this gene appear to be linked to gastrointestinal phenotypes alongside immunological phenotypes.Created: 26 Jul 2018, 10:19 a.m.
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.
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.
Gene: cybb has been classified as Green List (High Evidence).
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Model of inheritance for gene CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene CYBB were set to Early Onset Inflammatory Bowel Disease, Chronic granulomatous disease, X-linked 306400
CYBB was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
CYBB was created by Olivia Niblock