Inherited predisposition to acute myeloid leukaemia (AML)

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

5 reviews

Paula Page (WWMGLH)

Green List (high evidence)

On the current WWMGLH Familial MDS/AML panel. In WHO classification. Testing recommended in AML ELN guidelines and by Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378).
Created: 7 Mar 2019, 11:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
116897; 601626

Publications

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

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
116897 / 601626 Leukemia, acute myeloid, somatic

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

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 2:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
601626 Leukemia, acute myeloid, somatic

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Created: 18 Mar 2019, 4:25 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CEBPA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 116897 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Created: 18 Feb 2019, 2:12 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CEBPA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Created: 14 Feb 2019, 2:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CHEK2; Suggested intial gene rating: not submitted; Are variants in this gene part of your current diagnostic practice? not submitted; MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 609265 (OMIM phenotype description ID); PMID(s): 29902706
Created: 5 Feb 2019, 8:10 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating (none submitted) by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 8:08 p.m.

Details

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

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CEBPA were changed from 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID); 116897 / 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to ?Leukemia, acute myeloid, OMIM:601626; Leukemia, acute myeloid, somatic, OMIM:601626; Acute myeloid leukemia, MONDO:0018874

18 Mar 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CEBPA were set to 15575056; 23926458

18 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cebpa has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 116897 / 601626 Leukemia, acute myeloid, somatic for gene: CEBPA

18 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CEBPA.

14 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 601626 Leukemia, acute myeloid, somatic for gene: CEBPA

14 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CEBPA.

5 Feb 2019, Gel status: 2

Added New Source, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CEBPA. Added phenotypes 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID) for gene: CEBPA

5 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to CEBPA. Mode of inheritance for gene CEBPA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID) for gene: CEBPA Publications for gene CEBPA were changed from to 15575056; 23926458 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CEBPA was added gene: CEBPA was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CEBPA was set to