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Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 OSMR Boaz Palterer gene: OSMR was added
gene: OSMR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: OSMR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSMR were set to 42221229
Phenotypes for gene: OSMR were set to Atopic dermatitis; eosinophilia; elevated IgE
Penetrance for gene: OSMR were set to unknown
Review for gene: OSMR was set to GREEN
Added comment: Samra et al. identified 10 affected individuals from seven unrelated families with germline biallelic loss-of-function variants in OSMR who shared a phenotype of early-onset, severe, widespread atopic dermatitis with peripheral eosinophilia and markedly elevated serum IgE. All patient-derived OSMRβ variants failed to localize to the cell surface, resulting in selective loss of OSM-dependent signaling. Patient cells showed markedly reduced OSM-induced phosphorylation of STAT1, STAT3, and STAT5, while signaling through other IL-6 family receptor complexes remained intact. Transcriptomic profiling of patient primary dermal fibroblasts revealed consistent downstream effects, including loss of interferon-responsive and inflammatory gene programs. Re-expression of wild-type OSMR restored receptor surface expression, STAT activation, and transcriptional responses, confirming a causal loss-of-function mechanism. Together, these findings establish biallelic OSMR deficiency as a novel primary atopic disorder.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Louise Daugherty commented on gene: STAT1: 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 STAT1 Louise Daugherty edited their review of gene: STAT1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Kimberly Gilmour reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Tracy Briggs reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT1 Louise Daugherty Source NHS GMS was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT1 Louise Daugherty Source North West GLH was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT1 Louise Daugherty Source London North GLH was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty commented on gene: STAT1
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty marked gene: STAT1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Sophie Hambleton reviewed gene: STAT1
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Eleanor Williams classified STAT1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty commented on STAT1
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty classified STAT1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty commented on STAT1
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty commented on STAT1
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty reviewed STAT1
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty Added gene to panel