Primary immunodeficiencyGene: TNFSF11
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 IUIS Classification December 2019 was added to TNFSF11. Mode of inheritance for gene TNFSF11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Osteopetrosis with severe growth retardation; Defects in intrinsic and innate immunity for gene: TNFSF11 Publications for gene TNFSF11 were updated from to 32048120; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene TNFSF11 were set to Osteopetrosis with severe growth retardation, Defects in Intrinsic and Innate Immunity
TNFSF11 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
TNFSF11 was created by Louise Daugherty