Sarcoma susceptibility
Gene: TNFRSF11AEnsemblGeneIds (GRCh38): ENSG00000141655
EnsemblGeneIds (GRCh37): ENSG00000141655
OMIM: 603499, Gene2Phenotype
TNFRSF11A is in 10 panels
1 review
Ellen McDonagh (Genomics England Curator)
Gene and evidence provided by Adrienne Flanagan, UCL. Comment from Adrienne on the evidence for this gene: "TNFRSF11A is linked to familial Pagetic bone disease and Pagetic bone disease is associated with sarcoma…although the body of evidence linking TNFRSF11A and osteosarcoma is limited."Created: 14 May 2018, 3:49 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Expert Review Red
- Expert list
- Phenotypes
-
- {Paget disease of bone 2, early-onset}, OMIM:602080
- Osteosarcoma (disease), MONDO:0009807
- OMIM
- 603499
- Clinvar variants
- Variants in TNFRSF11A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TNFRSF11A were changed from Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma to {Paget disease of bone 2, early-onset}, OMIM:602080; Osteosarcoma (disease), MONDO:0009807
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to TNFRSF11A.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TNFRSF11A was added gene: TNFRSF11A was added to Sarcoma susceptibility. Sources: Expert Review Red Mode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNFRSF11A were set to 15758393; 12673693; 11351498 Phenotypes for gene: TNFRSF11A were set to Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma