Genomics England
GMS Panels
Panels
Genes and Entities

PRKDC

protein kinase, DNA-activated, catalytic polypeptide
OMIM: 600899
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 26, with or without neurologic abnormalities, Immunodeficiency, with or without neurologic abnormalities, DNA Pkcs deficiency, Combined immunodeficiency, Severe combined immunodeficiency (SCID), Nl NK, radiation sensitive, microcephaly, Immunodeficiencies affecting cellular and humoral immunity