CEBPA

CCAAT/enhancer binding protein alpha
OMIM: 116897, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CEBPA in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • Familial AML with mutated CEBPA
  • AML
  • No other known cancer risks

Green CEBPA in Inherited predisposition to acute myeloid leukaemia (AML)


Version 1.19
Latest signed off version: v1.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Leukemia, acute myeloid, OMIM:601626
  • Leukemia, acute myeloid, somatic, OMIM:601626
  • Acute myeloid leukemia, MONDO:0018874

Amber CEBPA in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.88

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Familial MDS (Myelodysplastic syndromes)
  • acute myeloid leukemia (AML)
Tags
  • somatic

Green CEBPA in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.21
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • Familial AML with mutated CEBPA
  • AML
  • No other known cancer risks