COVID-19 research
Gene: TNFSF11

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

17632511

Created: 7 May 2020, 1:57 p.m.
Last Modified: 7 May 2020, 1:57 p.m.
Panel version: 0.203

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.

Created: 6 Jul 2018, 12:23 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019
IUIS Classification February 2018
IUIS Classification December 2019
IUIS Classification February 2018

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

COVID-19 research Gene: TNFSF11