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Gene: TNFRSF11B

Green List (high evidence)
TNFRSF11B (TNF receptor superfamily member 11b)
EnsemblGeneIds (GRCh38): ENSG00000164761
EnsemblGeneIds (GRCh37): ENSG00000164761
OMIM: 602643, Gene2Phenotype
TNFRSF11B is in 6 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Causes generalised rapid bone turnover due to osteoprotogerin (OPG) deficiency
Short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness - also vasculiar risk of calcification and aneurysms.
Strong gene disease association
Variable age of onset - mostly in early childhood. Bi-allelic missense can be later onset.
Created: 8 Oct 2024, 5:47 a.m. | Last Modified: 8 Oct 2024, 5:47 a.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Paget disease of bone 5, juvenile-onset MIM#239000

Publications

Created: 8 Oct 2024, 5:47 a.m.
Last Modified: 8 Oct 2024, 5:47 a.m.
Panel version: 1.390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Paget disease of bone 5, juvenile-onset MIM#239000
OMIM
602643
Clinvar variants
Variants in TNFRSF11B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf11b has been classified as Green List (High Evidence).

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset, 239000 (3) to Paget disease of bone 5, juvenile-onset MIM#239000

11 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFRSF11B were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFRSF11B was added gene: TNFRSF11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset, 239000 (3)