A- or hypo-gammaglobulinaemiaGene: PLCG2
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.
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
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.
This gene has been classified as Amber List (Moderate Evidence).
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
Phenotypes for PLCG2 were set to Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory;Autoinflammation, antibody deficiency, and immune dysregulation syndrome;Familial cold autoinflammatory syndrome 3
PLCG2 was created by wmkr103
PLCG2 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Other,Literature,Expert list