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Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TLR3 Louise Daugherty commented on gene: TLR3: 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 TLR3 Louise Daugherty commented on gene: TLR3: 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 TLR3 Kimberly Gilmour reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TLR3 Tracy Briggs reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TLR3 Louise Daugherty Source NHS GMS was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TLR3 Louise Daugherty Source North West GLH was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TLR3 Louise Daugherty Source London North GLH was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty edited their review of gene: RIPK1: Added comment: From OMIM : Lourenco et al. (2018) PMID: 30026316 reports 4 patients from 3 unrelated consanguineous families with immunodeficiency-57 identifying homozygous loss-of-function mutations in the RIPK1 gene. The variants segregated with the disorder in the families and were not found in the gnomAD database. Functional studies of patient cells showed impaired mitogen-activated protein kinase activation, impaired phosphorylation of downstream signaling molecules, impaired proinflammatory signaling downstream of TNFR1 and TLR3 and defective secretion of certain cytokines. Similar results were observed in vitro in a monocyte-like cell line with CRISPR/Cas9-mediated knockdown of RAPK1. The findings indicated that RIPK1 plays a critical role in the human immune system.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty edited their review of gene: TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty marked gene: TLR3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Sophie Hambleton reviewed gene: TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Eleanor Williams classified TLR3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Eleanor Williams commented on gene: TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Eleanor Williams commented on gene: TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Eleanor Williams commented on gene: TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty commented on TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty classified TLR3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty commented on TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty commented on TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty reviewed TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty Added gene to panel