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COVID-19 research

Gene: CEBPE

Green List (high evidence)

CEBPE (CCAAT/enhancer binding protein epsilon)
EnsemblGeneIds (GRCh38): ENSG00000092067
EnsemblGeneIds (GRCh37): ENSG00000092067
OMIM: 600749, Gene2Phenotype
CEBPE is in 3 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note this additional publication, including two patients with heterozygous variants, and functional evidence.
Created: 10 Jul 2018, 10:43 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Specific granule deficiency 1

Publications

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 10 Jul 2018, 12:52 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 10 Jul 2018, 12:52 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 10 Jul 2018, 12:51 p.m.
Comment on mode of inheritance: updated MOI from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal from external expert review
Created: 10 Jul 2018, 12:50 p.m.
Comment on mode of inheritance: updated MOI from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal from external expert review
Created: 10 Jul 2018, 12:50 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CEBPE .PanelApp HGNC gene symbol check: CEBPE . IUIS Disease: Specific granule deficiency . IUIS Inheritance: AR .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Neutrophils with bilobed nuclei. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Motility
Created: 2 Jul 2018, 10:35 a.m.
Reviewed and decided to keep amber until more info on gene and disease association.
Created: 11 Jun 2018, 10:22 a.m.
Comment on publications: added publications to support Specific granule deficiency, Loss-of-function variants in CEBPE are known to be pathogenic (PMID: 11313242, 11435463), only two variants have been reported as pathogenic in the literature, one insertion, one deletion, and a third a nonsense, Single nucleotide variant reported in Clinvar (Invitae) where the sequence change created a premature translational stop signal (p.Arg131*) in the CEBPE gene, and was expected to result in an absent or disrupted protein product. The variant is present in population databases (rs760325316, ExAC no frequency). This variant has not been reported in the literature in individuals with CEBPE-related disease.
Created: 11 Jun 2018, 10:18 a.m.
Comment on phenotypes: added phenotype from Orphanet and MIMid from OMIM. Specific granule deficiency is extremely rare and is associated with killing defects and decreased granules within the neutrophils. Patients are at risk for bacterial and fungal infections
Created: 11 Jun 2018, 9:41 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CEBPE, PanelApp HGNC gene symbol check: CEBPE, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Specific granule defect / CCAAT/enhancer binding protein epsilon deficiency (CEBPE)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CEBPE, GRID_Gene_Symbol: CEBPE, GRID_Transcript_ENS_Community submitted: ENST00000206513, GRID_Transcript_RefSeq: NM_001805.2, GRID_Transcript_ENS_used_on_Production: ENST00000206513
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Specific granule deficiency 1
  • Recurrent infection due to specific granule deficiency
  • Congenital defects of phagocyte number or function
  • Specific granule deficiency, 245480
  • Neutrophils with bilobed nuclei
  • neutrophil lactoferrin deficiency
  • CCAAT/enhancer binding protein epsilon deficiency (CEBPE)
OMIM
600749
Clinvar variants
Variants in CEBPE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CEBPE was added gene: CEBPE was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CEBPE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CEBPE were set to 11313242; 29651288; 10359588 Phenotypes for gene: CEBPE were set to Specific granule deficiency 1; Recurrent infection due to specific granule deficiency; Congenital defects of phagocyte number or function; Specific granule deficiency, 245480; Neutrophils with bilobed nuclei; neutrophil lactoferrin deficiency; CCAAT/enhancer binding protein epsilon deficiency (CEBPE)