COVID-19 research
Gene: CSF2RB
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CSF2RB .PanelApp HGNC gene symbol check: CSF2RB . IUIS Disease: Congenital pulmonary alveolar proteinosis due to CSF2RB mutations . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Alveolar macrophages. IUIS Associated features: Alveolar proteinosis. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Other Non-Lymphoid DefectsCreated: 6 Jul 2018, 12:11 p.m.
Comment on list classification: Associated with pulmonary alveolar proteinosis. Reported in at least two families and supported by mouse model. Green from external expert review and further publications to support gene-disease associationCreated: 6 Jul 2018, 10:04 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 6 Jul 2018, 10:02 a.m.
gene: CSF2RB was added gene: CSF2RB was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RB were set to 21205713; 21075760; 9410898 Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, 614370; Congenital defects of phagocyte number or function; Alveolar proteinosis