ZAP70

zeta chain of T-cell receptor associated protein kinase 70
OMIM: 176947
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune disease, multisystem, infantile-onset, 2, Immunodeficiency 48, Severe Combined Immune Deficiency, Selective T-cell defect, Zap-70 deficiency, Combined immunodeficiency, Severe combined immunodeficiency (SCID), May have immune dysregulation, autoimmunity, Immunodeficiencies affecting cellular and humoral immunity, Severe autoimmunity, Diseases of Immune Dysregulation