Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.307 RFXAP Eleanor Williams Classified gene: RFXAP as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.307 RFXAP 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 v2.307 RFXAP Eleanor Williams Gene: rfxap has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RFXAP Eleanor Williams Source Other was added to RFXAP.
Publications for gene RFXAP were updated from 9118943; 9287230; 22390233; 20197681; 18336911; 12498778; 9806639 to 22390233; 9118943; 9806639; 9806639; 9287230; 18336911; 20197681; 12498778
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RFXAP Eleanor Williams reviewed gene: RFXAP: Rating: ; Mode of pathogenicity: ; Publications: 20197681, 9287230, 9806639, 18336911, 12498778, 22390233, 9118943; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXAP Louise Daugherty commented on gene: RFXAP: 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 RFXAP Louise Daugherty commented on gene: RFXAP: 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 RFXAP Kimberly Gilmour reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXAP Tracy Briggs reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RFXAP Louise Daugherty Source NHS GMS was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RFXAP Louise Daugherty Source North West GLH was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RFXAP Louise Daugherty Source London North GLH was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease RFXAP Louise Daugherty commented on gene: RFXAP
Primary immunodeficiency or monogenic inflammatory bowel disease RFXAP Louise Daugherty marked gene: RFXAP as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RFXAP Louise Daugherty edited their review of RFXAP
Primary immunodeficiency or monogenic inflammatory bowel disease RFXAP Louise Daugherty commented on RFXAP
Primary immunodeficiency or monogenic inflammatory bowel disease RFXAP Louise Daugherty commented on RFXAP
Primary immunodeficiency or monogenic inflammatory bowel disease RFXAP Louise Daugherty reviewed RFXAP
Primary immunodeficiency or monogenic inflammatory bowel disease RFXAP Louise Daugherty Added gene to panel