Haematological malignancies for rare disease

Gene: CEBPA

Green List (high evidence)

CEBPA (CCAAT/enhancer binding protein alpha)
EnsemblGeneIds (GRCh38): ENSG00000245848
EnsemblGeneIds (GRCh37): ENSG00000245848
OMIM: 116897, Gene2Phenotype
CEBPA is in 4 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
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
OMIM
116897
Clinvar variants
Variants in CEBPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CEBPA was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources

10 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

CEBPA was created by Ellen McDonagh