Activity

Filter

Cancel
Date Panel Item Activity
25 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.481 PI4KA Ivone Leong commented on gene: PI4KA: There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

Review by Sophie Hambleton (Newcastle University):

"The immunological abnormalities in PI4KA def are obviously rather variable and a slight side-show to the primary GI and neurologic pathology – however that is a detail that should come out when any putative case is reviewed in detail so I would include this as a “CID with associated or syndromic features” on the same basis as TTC7A"
Primary immunodeficiency or monogenic inflammatory bowel disease v2.330 TTC7A Eleanor Williams Classified gene: TTC7A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.330 TTC7A 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 v2.330 TTC7A Eleanor Williams Gene: ttc7a has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TTC7A Eleanor Williams Source Other was added to TTC7A.
Publications for gene TTC7A were updated from 24292712; 23423984; 23830146; 24417819; 24417819 to 23423984; 23830146; 24292712; 24417819
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TTC7A Eleanor Williams reviewed gene: TTC7A: Rating: ; Mode of pathogenicity: ; Publications: 24292712, 23423984, 23830146; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC7A Louise Daugherty commented on gene: TTC7A: 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 TTC7A Louise Daugherty commented on gene: TTC7A: 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 TTC7A Kimberly Gilmour reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC7A Tracy Briggs reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TTC7A Louise Daugherty Source NHS GMS was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TTC7A Louise Daugherty Source North West GLH was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TTC7A Louise Daugherty Source London North GLH was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty commented on gene: TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty marked gene: TTC7A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty classified TTC7A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty edited their review of gene: TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Sophie Hambleton reviewed gene: TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty classified TTC7A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty commented on TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty commented on TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty commented on TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty reviewed TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty Added gene to panel