Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CYBA
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
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.
Publications for CYBA were set to 27537055
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CYBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690
CYBA was created by ellenmcdonagh
CYBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list