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Primary immunodeficiency or monogenic inflammatory bowel disease v2.210 AP1S3 Eleanor Williams Classified gene: AP1S3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.210 AP1S3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber 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 v2.210 AP1S3 Eleanor Williams Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 AP1S3 Eleanor Williams Source Other was added to AP1S3.
Publications for gene AP1S3 were updated from 32048120; 32086639 to 32086639; 24791904; 32048120
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 AP1S3 Eleanor Williams reviewed gene: AP1S3: Rating: ; Mode of pathogenicity: ; Publications: 24791904; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 AP1S3 Louise Daugherty Source IUIS Classification December 2019 was added to AP1S3.
Added phenotypes Pustular psoriasis; Autoinflammatory Disorders for gene: AP1S3
Publications for gene AP1S3 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 AP1S3 Louise Daugherty commented on gene: AP1S3: Pustular psoriasis susceptibility: variant seen in cases > controls. Is this a relevant phenotype / is this clinically useful?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 AP1S3 Louise Daugherty commented on gene: AP1S3: 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 only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 AP1S3 Louise Daugherty commented on gene: AP1S3: 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 only enough evidence to rate this gene Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 AP1S3 Kimberly Gilmour reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 AP1S3 Tracy Briggs reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 AP1S3 Louise Daugherty ERCC2 was changed to AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 AP1S3 Louise Daugherty Source North West GLH was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 AP1S3 Louise Daugherty Source London North GLH was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 AP1S3 Louise Daugherty Source NHS GMS was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty marked gene: AP1S3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty commented on gene: AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty edited their review of gene: AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Sophie Hambleton reviewed gene: AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty classified AP1S3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty Added gene to panel