CEBPE

CCAAT/enhancer binding protein epsilon
OMIM: 600749, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CEBPE in COVID-19 research


Level 2: Viral research
Version 1.130

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


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

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 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Specific granule deficiency, 245480