PLCG2

phospholipase C gamma 2
OMIM: 600220
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878, Familial cold autoinflammatory syndrome 3 614468, Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory, Familial cold autoinflammatory syndrome 3, Other autoinflammatory diseases with known genetic defect, Cold urticaria hypogammaglobulinemia, autoinflammation, Autoinflammatory Disorders