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Primary immunodeficiency or monogenic inflammatory bowel disease v2.524 ADA2 Arina Puzriakova Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa; Polyarteritis nodosa, childhood-onset, 615688; ADA2 deficiency; Deficiency of ADA2 (DADA2); Other autoinflammatory diseases with known genetic defect; Fever with early onset stroke; combined immunodeficiency; Evans' syndrome; Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever; Autoinflammatory Disorders to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.219 ADA2 Eleanor Williams Classified gene: ADA2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.219 ADA2 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 v2.219 ADA2 Eleanor Williams Gene: ada2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ADA2 Eleanor Williams Source Other was added to ADA2.
Publications for gene ADA2 were updated from 24552284; 24552285; 26922074; 29564582 to 24552284; 24552285; 29564582; 27059682; 26922074; 27444081
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ADA2 Eleanor Williams reviewed gene: ADA2: Rating: ; Mode of pathogenicity: ; Publications: 24552285, 24552284, 27059682, 27444081; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA2 Louise Daugherty commented on gene: ADA2: 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 ADA2 Louise Daugherty commented on gene: ADA2: 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 ADA2 Kimberly Gilmour reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA2 Tracy Briggs reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ADA2 Louise Daugherty Source NHS GMS was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ADA2 Louise Daugherty Source North West GLH was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ADA2 Louise Daugherty Source London North GLH was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty commented on gene: ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty marked gene: ADA2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Sophie Hambleton reviewed gene: ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty commented on ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty classified ADA2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty commented on ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty commented on ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty commented on ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty commented on ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty reviewed ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty Added gene to panel