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Primary immunodeficiency

Gene: TNFSF11

Red List (low evidence)

TNFSF11 (TNF superfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000120659
EnsemblGeneIds (GRCh37): ENSG00000120659
OMIM: 602642, Gene2Phenotype
TNFSF11 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

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.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Defects in Intrinsic and Innate Immunity
  • Osteopetrosis with severe growth retardation
  • Defects in intrinsic and innate immunity
Clinvar variants
Variants in TNFSF11
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TNFSF11 were set to Osteopetrosis with severe growth retardation, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TNFSF11 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1


Louise Daugherty (Genomics England Curator)

TNFSF11 was created by Louise Daugherty