phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
OMIM: 602839
PanelMode of inheritanceDetails
2 panels
R-numbers: R15
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Immunodeficiency 14,615513, Combined immunodeficiency, Unclassified antibody deficiency, Activated PI3K-delta syndrome (APDS), sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia, Severe bacterial infections, decreased or absent pro-B cells, EBV, Predominantly Antibody Deficiencies
R-numbers: R189
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Immunodeficiency 14, 615513, Bronchiectasis