Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: PLCG2EnsemblGeneIds (GRCh38): ENSG00000197943
EnsemblGeneIds (GRCh37): ENSG00000197943
OMIM: 600220, Gene2Phenotype
PLCG2 is in 6 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
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.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
- OMIM
- 600220
- Clinvar variants
- Variants in PLCG2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PLCG2 were changed from Phospholipase C_2 defects; Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878 to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PLCG2 were set to 23000145;22236196
Upload gene information
Sarah Leigh (Genomics England Curator)PLCG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene PLCG2 were set to Phospholipase C_2 defects; Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878
Created
Ellen McDonagh (Genomics England Curator)PLCG2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PLCG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list