Cytopenias and congenital anaemias
Gene: CEBPA

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Somatic variants also reported
Created: 9 Mar 2017, 4:59 p.m.

Created: 9 Mar 2017, 4:59 p.m.

Panel version: 0.527

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:45 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 12692518 risk, PMID: 15575056 - a family affected by acute myeloid leukemia (AML) reported with a germline variant in this gene.
Created: 3 Mar 2017, 1:46 p.m.

The "CEBPS" gene was submitted in an expert list, with the chromosomal location Chr19:33790840-33793430 which corresponds to the CEBPA gene.
Created: 30 Sep 2015, 3:02 p.m.

Created: 30 Sep 2015, 3:02 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version Imported from "Early onset pancytopenia and red cell disorders" panel version 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Expert list

Phenotypes

Familial MDS (Myelodysplastic syndromes)
acute myeloid leukemia (AML)

Tags

somatic

OMIM

116897

Clinvar variants

Variants in CEBPA

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

24 Jun 2019, Gel status: 2

Removed Tag, Added Tag

Louise Daugherty (Genomics England Curator)

Tag somatic-germline was removed from gene: CEBPA. Tag somatic tag was added to gene: CEBPA.

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CEBPA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Mar 2017, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CEBPA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Mar 2017, Gel status: 2