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Primary immunodeficiency or monogenic inflammatory bowel disease v2.289 ORAI1 Eleanor Williams Classified gene: ORAI1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.289 ORAI1 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 v2.289 ORAI1 Eleanor Williams Gene: orai1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ORAI1 Eleanor Williams Source Other was added to ORAI1.
Publications for gene ORAI1 were updated from 16582901; 20004786 to 7798233; 16582901; 8814256; 20004786
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ORAI1 Eleanor Williams reviewed gene: ORAI1: Rating: ; Mode of pathogenicity: ; Publications: 8814256, 7798233, 16582901; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 ORAI1 Sophie Hambleton edited their review of gene: ORAI1: Added comment: As stated below, there is good evidence that AR mutations in this gene cause immunodeficiency; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Louise Daugherty commented on gene: ORAI1: 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 ORAI1 Louise Daugherty commented on gene: ORAI1: 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 ORAI1 Kimberly Gilmour edited their review of gene: ORAI1: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Tracy Briggs reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ORAI1 Louise Daugherty Source North West GLH was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ORAI1 Louise Daugherty Source London North GLH was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty commented on gene: ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty marked gene: ORAI1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty edited their review of gene: ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Sarah Leigh classified ORAI1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty commented on ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty commented on ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty commented on ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty reviewed ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty Added gene to panel