Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CCBE1Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 12:31 p.m. | Last Modified: 14 Oct 2020, 12:31 p.m.
Panel Version: 2.230
The following PubMed IDs were added to gene CCBE1 (OMIM gene MIM#612753): 19911200;19935664. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 featuresCreated: 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 associationCreated: 27 Jun 2018, 4:20 p.m.
Comment on mode of inheritance: changed MOI from expert review and PMID:24913602Created: 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 phenotypeCreated: 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: ENST00000439986Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphedema syndrome 1, 235510; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features; Combined immunodeficiencies with associated or syndromic features to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features; Combined immunodeficiencies with associated or syndromic features
Gene: ccbe1 has been classified as Green List (High Evidence).
Source Other was added to CCBE1. Publications for gene CCBE1 were updated from 19935664; 19911200; 24913602 to 19911200; 24913602; 19935664 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to CCBE1.
Source North West GLH was added to CCBE1.
Source London North GLH was added to CCBE1.
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.
Phenotypes for gene CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510, Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features, Combined immunodeficiencies with associated or syndromic features
Gene: ccbe1 has been classified as Green List (High Evidence).
Gene: ccbe1 has been classified as Green List (High Evidence).
Publications for gene: CCBE1 were set to 19935664; 19911200; 24913602
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCBE1 were set to 19935664; 19911200
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1,235510
IUIS Classification February 2018 was added to CCBE1. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to CCBE1. Panel: Primary immunodeficiency disorders
Expert Review Amber was added to CCBE1. Panel: Primary immunodeficiency disorders
Phenotypes for gene CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1
CCBE1 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
CCBE1 was created by Louise Daugherty