Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: TNFSF11

Green List (high evidence)

TNFSF11 (TNF superfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000120659
EnsemblGeneIds (GRCh37): ENSG00000120659
OMIM: 602642, Gene2Phenotype
TNFSF11 is in 4 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
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

Phenotypes
osteopetrosis, osteoclast-poor

Publications

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Osteopetrosis with severe growth retardation
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
OMIM
602642
Clinvar variants
Variants in TNFSF11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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