Skeletal dysplasia
Gene: TNFRSF11B
green - multiple mutations. Previously called OPG. Other sclerosing bone disorders gp of SD; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Paget disease of bone 5, juvenile-onset 239000
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TNFRSF11B; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:13 p.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Paget disease of bone 5, juvenile-onset 239000
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Paget disease of bone 5, juvenile-onset 239000 for gene: TNFRSF11B
Source NHS GMS was added to TNFRSF11B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for TNFRSF11B were set to Paget disease of bone 5, juvenile-onset 239000
Mode of inheritance for TNFRSF11B was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TNFRSF11B was created by sleigh
TNFRSF11B was added to Unexplained skeletal dysplasiapanel. Sources: