PLCG2

phospholipase C gamma 2
OMIM: 600220
PanelMode of inheritanceDetails
2 panels
R-numbers: R413
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878, Familial cold autoinflammatory syndrome 3, OMIM:614468
R-numbers: R15
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878, Familial cold autoinflammatory syndrome 3, OMIM:614468, Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory