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Primary immunodeficiency or monogenic inflammatory bowel disease v4.194 CCBE1 Arina Puzriakova 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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.230 CCBE1 Eleanor Williams Classified gene: CCBE1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.230 CCBE1 Eleanor Williams Added comment: Comment 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.230 CCBE1 Eleanor Williams Gene: ccbe1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CCBE1 Eleanor Williams 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)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CCBE1 Eleanor Williams reviewed gene: CCBE1: Rating: ; Mode of pathogenicity: ; Publications: 19911200, 19935664; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Louise Daugherty commented on gene: CCBE1: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Louise Daugherty commented on gene: CCBE1: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Kimberly Gilmour reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Tracy Briggs reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CCBE1 Louise Daugherty Source NHS GMS was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CCBE1 Louise Daugherty Source North West GLH was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CCBE1 Louise Daugherty Source London North GLH was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty commented on gene: CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty marked gene: CCBE1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty classified CCBE1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty edited their review of gene: CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty commented on gene: CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Sophie Hambleton reviewed gene: CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty commented on CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty reviewed CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty Added gene to panel