CEBPE

CCAAT/enhancer binding protein epsilon
OMIM: 600749, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green CEBPE in COVID-19 research Level 2: Viral research Version 1.142	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 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
Green CEBPE in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 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
Green CEBPE in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Specific granule deficiency, 245480