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Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 CSF2RA Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 CSF2 Arina Puzriakova Classified gene: CSF2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 CSF2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Relevant phenotype but currently only a single family reported (PMID:33349924). Rating Red, awaiting further cases/clinical evidence to support pathogenicity.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 CSF2 Arina Puzriakova Gene: csf2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 CSF2 Boaz Palterer gene: CSF2 was added
gene: CSF2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CSF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF2 were set to 33349924
Phenotypes for gene: CSF2 were set to Behcet-like disease; Pathergy
Penetrance for gene: CSF2 were set to unknown
Mode of pathogenicity for gene: CSF2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CSF2 was set to RED
Added comment: Rösler et al. described a kindred with two patients affected by a Behcet-like disease characterized by marked pathergy and absent inflammation. They identified a heterozygous variant in the GM-CSF gene CSF2 (c.130A>C, p.N44H) resulting in disruption of an N-glycosylation site. They show that de-glycosylated GM-CSF enhances STAT-5 phosphorylation, and therefore the variant acts as a gain-of-function.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 CSF2RB Zornitza Stark reviewed gene: CSF2RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 CSF2RA Louise Daugherty Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RB Louise Daugherty commented on gene: CSF2RB: 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 CSF2RA Louise Daugherty commented on gene: CSF2RA: 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 CSF2RB Louise Daugherty edited their review of gene: CSF2RB: 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 CSF2RA Louise Daugherty commented on gene: CSF2RA: 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 CSF2RB Kimberly Gilmour reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Kimberly Gilmour reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RB Tracy Briggs reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Tracy Briggs reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CSF2RB Louise Daugherty Source NHS GMS was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CSF2RA Louise Daugherty Source NHS GMS was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CSF2RB Louise Daugherty Source North West GLH was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CSF2RA Louise Daugherty Source North West GLH was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CSF2RB Louise Daugherty Source London North GLH was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CSF2RA Louise Daugherty Source London North GLH was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty commented on gene: CSF2RB
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty marked gene: CSF2RB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty classified CSF2RB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty reviewed gene: CSF2RB
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty commented on gene: CSF2RA
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Sophie Hambleton reviewed gene: CSF2RB
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty edited their review of gene: CSF2RA
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty marked gene: CSF2RA as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty classified CSF2RA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Sophie Hambleton reviewed gene: CSF2RA
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty classified CSF2RA as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty commented on gene: CSF2RA
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty commented on CSF2RA
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty commented on CSF2RA
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty commented on CSF2RA
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty reviewed CSF2RA