A- or hypo-gammaglobulinaemia
Gene: PLCG2Comment 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 FunctionCreated: 15 Aug 2017, 1:09 p.m.
Disease alleles cause gain of phospholipase activity that may or may not be temperature-dependentCreated: 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.
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
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