Genomics England
GMS Panels
Panels
Genes and Entities

CEBPE

CCAAT/enhancer binding protein epsilon
OMIM: 600749
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Specific granule deficiency, OMIM:245480, CCAAT/enhancer binding protein epsilon deficiency (CEBPE), Recurrent infection due to specific granule deficiency, Neutrophil lactoferrin deficiency, Neutrophils with bilobed nuclei, Congenital defects of phagocyte number or function