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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 v1.137 CSF2RA Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI due to MOI checks carried out by PanelApp team. This gene is on the pseudoautosomal region of chromosome X which is shared with chromoseome Y, so MOI affected cases are biallelic.
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 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 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 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 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 CSF2RA Louise Daugherty Source NHS GMS was added to CSF2RA.
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 CSF2RA Louise Daugherty Source London North GLH was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty commented on gene: CSF2RA
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
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty Added gene to panel