Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 IFNGR2 Arina Puzriakova Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743; 30264912
Primary immunodeficiency or monogenic inflammatory bowel disease v4.124 IFNGR2 Arina Puzriakova Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, Mycobacteriosis, 614889; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria and Salmonella; Defects in Intrinsic and Innate Immunity to Immunodeficiency 28, mycobacteriosis, OMIM:614889
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR2 Louise Daugherty commented on gene: IFNGR2: 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 IFNGR2 Louise Daugherty commented on gene: IFNGR2: 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 IFNGR2 Kimberly Gilmour reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR2 Tracy Briggs reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IFNGR2 Louise Daugherty Source NHS GMS was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IFNGR2 Louise Daugherty Source North West GLH was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IFNGR2 Louise Daugherty Source London North GLH was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 IFNGR2 Louise Daugherty Added comment: Comment on publications: Added publication PMID:30264912 as suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) to support mode of inheritance change to reflect both biallelic and monoallelic.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 IFNGR2 Louise Daugherty Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 IFNGR2 Louise Daugherty Added comment: Comment on mode of inheritance: From external review the MOI was changed from biallelic to both biallelic and monoallelic to cover the AR and AD options in the table in PMID:30264912
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 IFNGR2 Louise Daugherty Mode of inheritance for gene: IFNGR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty edited their review of gene: IFNGR2
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty marked gene: IFNGR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty classified IFNGR2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Sophie Hambleton reviewed gene: IFNGR2
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty commented on IFNGR2
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty commented on IFNGR2
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty commented on IFNGR2
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty reviewed IFNGR2
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty Added gene to panel