Genomics England
GMS Panels
Panels
Genes and Entities

PRKCD

protein kinase C delta
OMIM: 176977
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune lymphoproliferative syndrome, type III 615559, Immunodeficiency, common variable, 9, Autoimmune lymphoproliferative syndrome (ALPS), Unclassified antibody deficiency, Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG, Diseases of Immune Dysregulation