Genomics England
GMS Panels
Panels
Genes and Entities

CASP8

caspase 8
OMIM: 601763
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Caspase-8 deficiency state, CEDS, Immunodeficiency due to CASP8 deficiency, Caspase 8 deficiency, Autoimmune lymphoproliferative syndrome (ALPS), ?Autoimmune lymphoproliferative syndrome, type IIB, 607271, Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia, Diseases of Immune Dysregulation