PIK3CG

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
OMIM: 601232
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation, HLH-like, childhood-onset antibody defects, cytopenias, T lymphocytic pneumonitis and colitis