Genomics England
GMS Panels
Panels
Genes and Entities

PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
OMIM: 602839
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 14A, autosomal dominant, OMIM:615513, Immunodeficiency 14B, autosomal recessive, OMIM:619281, Combined immunodeficiency, Activated PI3K-delta syndrome (APDS), Predominantly Antibody Deficiencies, Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia, Severe bacterial infections
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 14A, autosomal dominant, OMIM:615513, Bronchiectasis