Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: PLCG2
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Amber List (Moderate Evidence).
Publications for PLCG2 were set to 23000145;22236196
PLCG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Phenotypes for gene PLCG2 were set to Phospholipase C_2 defects; Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878
PLCG2 was created by ellenmcdonagh
PLCG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list