Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: PLCG2

Amber List (moderate evidence)

PLCG2 (phospholipase C gamma 2)
EnsemblGeneIds (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)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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
  • Phospholipase C_2 defects
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878
OMIM
600220
Clinvar variants
Variants in PLCG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 2

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.

12 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PLCG2 were set to 23000145;22236196

6 Sep 2016, Gel status: 2

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

6 Sep 2016, Gel status: 0

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

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLCG2 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLCG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list