Genes in panel
STRs in panel
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COVID-19 research

Gene: CCBE1

Green List (high evidence)

CCBE1 (collagen and calcium binding EGF domains 1)
EnsemblGeneIds (GRCh38): ENSG00000183287
EnsemblGeneIds (GRCh37): ENSG00000183287
OMIM: 612753, Gene2Phenotype
CCBE1 is in 10 panels

4 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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CCBE1 .PanelApp HGNC gene symbol check: CCBE1 . IUIS Disease: Hennekam-lymphangiectasia-lymphedema syndrome due to CCBE1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Low/variable, .IUIS Other affected cells: N/A. IUIS Associated features: Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Other Combined immunodeficiencies with associated or syndromic features
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease association
Created: 27 Jun 2018, 4:20 p.m.
Comment on mode of inheritance: changed MOI from expert review and PMID:24913602
Created: 27 Jun 2018, 4:18 p.m.
from orphanet: Less than 50 cases have been reported in the literature. The entity occurs in all ethnic groups.
Created: 27 Jun 2018, 4:16 p.m.
Comment on publications: added publications to support the phenotype
Created: 27 Jun 2018, 4:16 p.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 supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CCBE1, GRID_Gene_Symbol: CCBE1, GRID_Transcript_ENS_Community submitted: ENST00000439986, GRID_Transcript_RefSeq: NM_133459.3, GRID_Transcript_ENS_used_on_Production: ENST00000439986
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Combined immunodeficiencies with associated or syndromic features
  • Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
OMIM
612753
Clinvar variants
Variants in CCBE1
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: CCBE1 was added gene: CCBE1 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCBE1 were set to 24913602; 19911200; 19935664 Phenotypes for gene: CCBE1 were set to Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features; Combined immunodeficiencies with associated or syndromic features; Hennekam lymphangiectasia-lymphedema syndrome 1, 235510