Skeletal dysplasia
Gene: TNFRSF11A
Osteopetrosis and related disorders SD gp, Osteolysis gp of SD, gene previously known as RANK. green - multiple mutations; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Osteolysis, familial expansile 174810; Osteopetrosis, autosomal recessive 7 612301; Paget disease of bone 2, early-onset 602080
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: TNFRSF11A; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on mode of inheritance: It is suggested that the mode of inheritance for TNFRSF11A should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review.Created: 22 Sep 2020, 8:39 a.m. | Last Modified: 22 Sep 2020, 8:39 a.m.
Panel Version: 2.20
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:52 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 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Osteolysis, familial expansile 174810; Osteopetrosis, autosomal recessive 7 612301; {Paget disease of bone 2, early-onset} 602080
Variants in this GENE are reported as part of current diagnostic practice
Tag to_be_confirmed_NHSE tag was added to gene: TNFRSF11A.
Mode of inheritance for gene: TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag for-review tag was added to gene: TNFRSF11A.
Added phenotypes Osteolysis, familial expansile 174810; Osteopetrosis, autosomal recessive 7 612301; Paget disease of bone 2, early-onset 602080 for gene: TNFRSF11A
Source NHS GMS was added to TNFRSF11A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for TNFRSF11A were set to Osteolysis, familial expansile 174810; Osteopetrosis, autosomal recessive 7 612301; Paget disease of bone 2, early-onset 602080
Mode of inheritance for TNFRSF11A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TNFRSF11A was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory TNFRSF11A was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
TNFRSF11A was created by sleigh
TNFRSF11A was added to Unexplained skeletal dysplasiapanel. Sources: