Skeletal dysplasia
Gene: TNFRSF11AEnsemblGeneIds (GRCh38): ENSG00000141655
EnsemblGeneIds (GRCh37): ENSG00000141655
OMIM: 603499, Gene2Phenotype
TNFRSF11A is in 10 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 4 May 2024, 3:54 p.m. | Last Modified: 4 May 2024, 4:39 p.m.
Panel Version: 5.3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Osteolysis, familial expansile 174810
- Osteopetrosis, autosomal recessive 7 612301
- Paget disease of bone 2, early-onset 602080
- OMIM
- 603499
- Clinvar variants
- Variants in TNFRSF11A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag for-review was removed from gene: TNFRSF11A. Tag to_be_confirmed_NHSE was removed from gene: TNFRSF11A.
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Eleanor Williams (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: TNFRSF11A.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: TNFRSF11A.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Osteolysis, familial expansile 174810; Osteopetrosis, autosomal recessive 7 612301; Paget disease of bone 2, early-onset 602080 for gene: TNFRSF11A
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to TNFRSF11A. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TNFRSF11A were set to Osteolysis, familial expansile 174810; Osteopetrosis, autosomal recessive 7 612301; Paget disease of bone 2, early-onset 602080
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TNFRSF11A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)TNFRSF11A was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory TNFRSF11A was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
Created
Sarah Leigh (Genomics England Curator)TNFRSF11A was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)TNFRSF11A was added to Unexplained skeletal dysplasiapanel. Sources: