Gastrointestinal epithelial barrier disorders
Gene: PLCG2Comment on list classification: Expert review green on this gene, however previous curation has indicated that variants in this gene may be more strongly linked to immunological disorders rather than gastrointestinal phenotypes. One patient recorded with immunological features as well as Ulcerative Colitis PMID 23000145Created: 26 Jul 2018, 10:59 a.m.
Comment on list classification: It is a possible DD gene for Autoinflammation, antibody deficiency, and immune dysregulation syndrome-PLCG2 associated (PMID: 23000145 one family), and a possible DD gene for Familial cold autoinflammatory syndrome 3 (PMID: 22236196 on family, unclear whether inflammation in the bowel was a feature).Created: 12 Oct 2016, 9:21 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. One variant reported in one patient with autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878 and ulcerative colitis (PMID 23000145)
Created: 6 Sep 2016, 10:41 a.m.
Phenotypes for gene: PLCG2 were changed from Inflammatory Bowel Disease (Very Early Onset) to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
Gene: plcg2 has been classified as Amber List (Moderate 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
PLCG2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN
PLCG2 was created by Olivia Niblock