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Newborns main panel

Gene: TNFRSF11B

Green List (high evidence)
TNFRSF11B (TNF receptor superfamily member 11b)
EnsemblGeneIds (GRCh38): ENSG00000164761
EnsemblGeneIds (GRCh37): ENSG00000164761
OMIM: 602643, Gene2Phenotype
TNFRSF11B is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 31655221 - reference cases with 13 mutations. PMID: 40775369 - reference 80 cases
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:28 p.m.
Last Modified: 31 Dec 2025, 2:28 p.m.
Panel version: 0.499

Details

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

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: TNFRSF11B was added gene: TNFRSF11B was added to Newborns main panel. Sources: 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