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Primary immunodeficiency or monogenic inflammatory bowel disease v2.246 EPG5 Eleanor Williams Classified gene: EPG5 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.246 EPG5 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 v2.246 EPG5 Eleanor Williams Gene: epg5 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 EPG5 Eleanor Williams Source Other was added to EPG5.
Publications for gene EPG5 were updated from 23222957; 25331754; 26917586; 26395118; 23838600; 23674064; 28624465 to 23674064; 28624465; 26917586; 28168853; 26395118; 23222957; 23838600; 25331754
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 EPG5 Eleanor Williams reviewed gene: EPG5: Rating: ; Mode of pathogenicity: ; Publications: 25331754, 28168853, 23222957; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Louise Daugherty commented on gene: EPG5: 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 EPG5 Louise Daugherty commented on gene: EPG5: 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 EPG5 Kimberly Gilmour reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Tracy Briggs reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 EPG5 Louise Daugherty Source NHS GMS was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 EPG5 Louise Daugherty Source North West GLH was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 EPG5 Louise Daugherty Source London North GLH was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease EPG5 Louise Daugherty commented on gene: EPG5
Primary immunodeficiency or monogenic inflammatory bowel disease EPG5 Louise Daugherty marked gene: EPG5 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease EPG5 Sophie Hambleton reviewed gene: EPG5
Primary immunodeficiency or monogenic inflammatory bowel disease EPG5 Louise Daugherty reviewed EPG5
Primary immunodeficiency or monogenic inflammatory bowel disease EPG5 Louise Daugherty Added gene to panel