COVID-19 research
Gene: TNFRSF11AOK for amberCreated: 23 Oct 2019, 7:13 a.m. | Last Modified: 23 Oct 2019, 7:13 a.m.
Panel Version: 1.132
agree with all the Amber genesCreated: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115
The amber genes are covered on our targeted exome, we feel that these should be covered in the testingCreated: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114
Osteopetrosis (AR) - green association, reported to have hypogammaglobulinaemia - presume a feasible presentation in immunology?Created: 26 Sep 2019, 4 p.m. | Last Modified: 26 Sep 2019, 4 p.m.
Panel Version: 1.130
Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test GroupCreated: 26 Sep 2019, 10:58 a.m. | Last Modified: 26 Sep 2019, 10:58 a.m.
Panel Version: 1.124
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 only enough evidence to rate this gene Amber.Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
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 only enough evidence to rate this gene AmberCreated: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFRSF11A .PanelApp HGNC gene symbol check: TNFRSF11A . IUIS Disease: TNFRSF11A deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic TissuesCreated: 6 Jul 2018, 12:24 p.m.
Source Expert Review Green was added to TNFRSF11A. Added phenotypes Osteopetrosis; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: TNFRSF11A Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: TNFRSF11A was added gene: TNFRSF11A was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF11A were set to 32086639; 32048120 Phenotypes for gene: TNFRSF11A were set to Osteopetrosis; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity