PanelApp
  1. Genes and Genomic Entities
  2. CEBPE

CEBPE

CCAAT/enhancer binding protein epsilon
OMIM: 600749, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CEBPE in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Specific granule deficiency, MIM# 245480
  • Immunodeficiency 108 with autoinflammation, MIM# 260570

Green CEBPE in Phagocyte Defects


Level 2: Immunological disorders
Version 1.44

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Specific granule deficiency, MIM# 245480

    Amber CEBPE in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.28

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Immunodeficiency 108 with autoinflammation , MIM# 260570

    Green CEBPE in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Specific granule deficiency, MIM# 245480
    Tags
    • treatable
    • immunological