Cytopenias and congenital anaemias
Gene: CEBPAComment on mode of inheritance: Somatic variants also reportedCreated: 9 Mar 2017, 4:59 p.m.
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.
Tag somatic-germline was removed from gene: CEBPA. Tag somatic tag was added to gene: CEBPA.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Mode of inheritance for CEBPA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for CEBPA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for CEBPA were set to Familial MDS (Myelodysplastic syndromes);acute myeloid leukemia (AML)
Publications for CEBPA were set to 18173751; 21606161; 15575056; 12692518; 15902292;19953636
Publications for CEBPA were set to 18173751; 21606161; 15575056; 12692518; 15902292
Publications for CEBPA were set to 18173751; 21606161; 15575056;12692518
Publications for CEBPA were set to 18173751;21606161;15575056
CEBPA was created by LouiseD
CEBPA was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list