Genomics England
GMS Panels
Panels
Genes and Entities

PIK3CG

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
OMIM: 601232
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation, HLH-like, childhood-onset antibody defects, cytopenias, T lymphocytic pneumonitis and colitis