CEBPE

CCAAT enhancer binding protein epsilon
OMIM: 600749, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CEBPE in Mendeliome


Version 2.0

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 2.0

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 3.0

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 2.0

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