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Primary immunodeficiency or monogenic inflammatory bowel disease v2.242 CTPS1 Eleanor Williams Classified gene: CTPS1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.242 CTPS1 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 v2.242 CTPS1 Eleanor Williams Gene: ctps1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CTPS1 Eleanor Williams Source Other was added to CTPS1.
Publications for gene CTPS1 were updated from 24870241; 26424649; 27638562; 17576681; 9536098 to 26424649; 17576681; 27638562; 9536098; 29884857; 24870241
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CTPS1 Eleanor Williams reviewed gene: CTPS1: Rating: ; Mode of pathogenicity: ; Publications: 24870241, 29884857; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTPS1 Louise Daugherty commented on gene: CTPS1: 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 CTPS1 Louise Daugherty commented on gene: CTPS1: 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 CTPS1 Kimberly Gilmour reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTPS1 Tracy Briggs reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CTPS1 Louise Daugherty Source NHS GMS was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CTPS1 Louise Daugherty Source North West GLH was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CTPS1 Louise Daugherty Source London North GLH was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty commented on gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty marked gene: CTPS1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Sophie Hambleton reviewed gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty edited their review of gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty classified CTPS1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty commented on gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty commented on gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty commented on gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty commented on gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty commented on gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty commented on CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty reviewed CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty Added gene to panel