Genomics England
GMS Panels
Panels
Genes and Entities

PLCG2

phospholipase C gamma 2
OMIM: 600220
PanelMode of inheritanceDetails
2 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878, Familial cold autoinflammatory syndrome 3, OMIM:614468
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
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