A- or hypo-gammaglobulinaemia

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: Variants in this gene are certainly linked to immunodeficiency. From literature review, found 2 papers documenting variation in this gene being linked to hypo-gammaglobulinaemia, the first paper 22236196, citing 3 individuals being treated for hypo-gammaglobulinaemia, however not clear if these individuals are related.
Created: 15 Aug 2017, 1:17 p.m.
Comment on mode of pathogenicity: Gain of Function
Created: 15 Aug 2017, 1:09 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Disease alleles cause gain of phospholipase activity that may or may not be temperature-dependent
Created: 6 Jan 2017, 3:30 p.m.

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Ellen McDonagh (Genomics England Curator)

It is a possible DD gene for Autoinflammation, antibody deficiency, and immune dysregulation syndrome-PLCG2 associated, and a possible DD gene for Familial cold autoinflammatory syndrome 3.
Created: 9 Sep 2016, 8:29 a.m.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Gain of function variants.
Created: 6 Sep 2016, 5:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome
  • Familial cold autoinflammatory syndrome 3
OMIM
600220
Clinvar variants
Variants in PLCG2
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

15 Aug 2017, Gel status: 0

Set mode of pathogenicity

Olivia Niblock (Genomics England Curator)

Mode of pathogenicity for PLCG2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Sep 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PLCG2 were set to Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory;Autoinflammation, antibody deficiency, and immune dysregulation syndrome;Familial cold autoinflammatory syndrome 3

6 Sep 2016, Gel status: 0

Created

William Rae (University Hospital Southampton NHS Foundation Trust)

PLCG2 was created by wmkr103

6 Sep 2016, Gel status: 0

Added New Source

William Rae (University Hospital Southampton NHS Foundation Trust)

PLCG2 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Other,Literature,Expert list