COVID-19 researchGene: TNFSF11
Created: 7 May 2020, 1:57 p.m. | Last Modified: 7 May 2020, 1:57 p.m.
Panel Version: 0.203
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFSF11 .PanelApp HGNC gene symbol check: TNFSF11 . IUIS Disease: TNFSF11 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: Progressive decrease in numbers, Abnormal lymphocyte responses to anti-CD3, .B cells: N/A, .IUIS Other affected cells: Stromal. IUIS Associated features: Osteopetrosis with severe growth retardation. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:23 p.m.
Source Expert Review Green was added to TNFSF11. Added phenotypes Osteopetrosis with severe growth retardation; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: TNFSF11 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TNFSF11 was added gene: TNFSF11 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFSF11 were set to 32086639; 32048120 Phenotypes for gene: TNFSF11 were set to Osteopetrosis with severe growth retardation; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity