Gastrointestinal epithelial barrier disorders
Gene: ITGB2Comment on list classification: Drawing on the two green reviews previously submitted and the evidence found in the literature (27886173), it appears that there is a link between variants in this gene and gastrointestinal epithelial barrier phenotypes (Inflammatory Bowel Disease and Ulcerative Colitis) however the literature describes the different methylation states (rather than specific SNPs) of various genes (including ITGB2) between patients with UC/IBD and controls and it is difficult to ascertain if the methylation is causative, contributory or unrelated to the gastrointestinal phenotypes or general inflammation.
In addition to this, internal clinical review has advised that this gene is not clearly linked to a gastrointestinal phenotype.
Therefore I have rated this gene as amber.Created: 25 Jul 2018, 2:01 p.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least 15 variants reported.
Created: 6 Sep 2016, 8 a.m.
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
Gene: itgb2 has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene ITGB2 was set to Unknown Publications for gene ITGB2 was set to ['27886173']
ITGB2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
ITGB2 was created by Olivia Niblock