1. Panels
  2. Gastrointestinal epithelial barrier disorders
  3. PLCG2
STRs in panel
Prev Next
Regions in panel
Prev Next

Gastrointestinal epithelial barrier disorders

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

4 reviews

Olivia Niblock (Genomics England Curator)

Comment 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 23000145
Created: 26 Jul 2018, 10:59 a.m.
Created: 26 Jul 2018, 10:59 a.m.

Panel version: 1.21

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.
Created: 12 Oct 2016, 9:21 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.138

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

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.
Created: 6 Sep 2016, 10:41 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.110

Details

Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
OMIM
600220
Clinvar variants
Variants in PLCG2
Penetrance
None
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PLCG2 were changed from Inflammatory Bowel Disease (Very Early Onset) to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878

26 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: plcg2 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

PLCG2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

PLCG2 was created by Olivia Niblock