Gastrointestinal epithelial barrier disorders
Gene: CYBAComment on list classification: From the expert review and previous curator review, it appears that variants in this gene are linked to gastrointestinal phenotypes alongside main immunological phenotypes as in Chronic granulomatous disease, autosomal, due to deficiency of CYBACreated: 26 Jul 2018, 10:15 a.m.
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.
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.
Gene: cyba 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
Phenotypes for gene CYBA were set to Early Onset Inflammatory Bowel Disease, Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 Publications for gene CYBA was set to ['27537055']
Phenotypes for gene CYBA were set to Early Onset Inflammatory Bowel Disease, Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 Publications for gene CYBA was 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.']
CYBA was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
CYBA was created by Olivia Niblock