Activity

Filter

Cancel
Date Panel Item Activity
18 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.291 PEPD Eleanor Williams Classified gene: PEPD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.291 PEPD 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 v2.291 PEPD Eleanor Williams Gene: pepd has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PEPD Eleanor Williams Source Other was added to PEPD.
Publications for gene PEPD were updated from 2365824; 1972707; 6637477; 2365824; 16470701; 8900231; 15309682; 17142620; 19308961 to 8900231; 2365824; 17142620; 26110198; 15309682; 6637477; 16470701; 19308961; 22726576; 1972707
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PEPD Eleanor Williams reviewed gene: PEPD: Rating: ; Mode of pathogenicity: ; Publications: 26110198, 22726576; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Louise Daugherty commented on gene: PEPD: 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 PEPD Louise Daugherty edited their review of gene: PEPD: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Kimberly Gilmour reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Tracy Briggs reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PEPD Louise Daugherty Source NHS GMS was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PEPD Louise Daugherty Source North West GLH was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PEPD Louise Daugherty Source London North GLH was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty marked gene: PEPD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty classified PEPD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty commented on gene: PEPD
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty reviewed gene: PEPD
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Sophie Hambleton reviewed gene: PEPD
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty Added gene to panel