Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CEBPE
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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
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 associationCreated: 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 GreenCreated: 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 reviewCreated: 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 reviewCreated: 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 MotilityCreated: 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 infectionsCreated: 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: ENST00000206513Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: CEBPE were changed from Specific granule deficiency, 245480; Specific granule deficiency 1; CCAAT/enhancer binding protein epsilon deficiency (CEBPE); Recurrent infection due to specific granule deficiency; neutrophil lactoferrin deficiency; Neutrophils with bilobed nuclei; Congenital defects of phagocyte number or function to Specific granule deficiency, OMIM:245480; CCAAT/enhancer binding protein epsilon deficiency (CEBPE); Recurrent infection due to specific granule deficiency; Neutrophil lactoferrin deficiency; Neutrophils with bilobed nuclei; Congenital defects of phagocyte number or function
Source NHS GMS was added to CEBPE.
Source North West GLH was added to CEBPE.
Source London North GLH was added to CEBPE.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: cebpe has been classified as Green List (High Evidence).
Gene: cebpe has been classified as Green List (High Evidence).
Phenotypes for gene: CEBPE were set to Specific granule deficiency, 245480; Specific granule deficiency 1; CCAAT/enhancer binding protein epsilon deficiency (CEBPE); Recurrent infection due to specific granule deficiency; neutrophil lactoferrin deficiency; Neutrophils with bilobed nuclei; Congenital defects of phagocyte number or function
Publications for gene: CEBPE were set to 10359588; 11313242; 29651288
Mode of inheritance for gene: CEBPE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: CEBPE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: CEBPE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene CEBPE were set to Specific granule deficiency, 245480, CCAAT/enhancer binding protein epsilon deficiency (CEBPE), Recurrent infection due to specific granule deficiency, neutrophil lactoferrin deficiency, Neutrophils with bilobed nuclei, Congenital defects of phagocyte number or function
IUIS Classification February 2018 was added to CEBPE. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to CEBPE. Panel: Primary immunodeficiency disorders
Publications for gene: CEBPE were set to 10359588; 11313242
Phenotypes for gene: CEBPE were set to Specific granule deficiency, 245480; CCAAT/enhancer binding protein epsilon deficiency (CEBPE); Recurrent infection due to specific granule deficiency; neutrophil lactoferrin deficiency
Expert Review Amber was added to CEBPE. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to CEBPE. Panel: Primary immunodeficiency disorders Phenotypes for gene CEBPE were set to Specific granule deficiency, CCAAT/enhancer binding protein epsilon deficiency (CEBPE)
Phenotypes for gene CEBPE were set to Specific granule deficiency
CEBPE was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
CEBPE was created by Louise Daugherty