Radial dysplasia
Gene: TBX3
TBX3 (T-box 3)
EnsemblGeneIds (GRCh38): ENSG00000135111
EnsemblGeneIds (GRCh37): ENSG00000135111
OMIM: 601621, Gene2Phenotype
TBX3 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000135111
EnsemblGeneIds (GRCh37): ENSG00000135111
OMIM: 601621, Gene2Phenotype
TBX3 is in 8 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Although commonly associated with an absent ulna, the radius is often shortened and bowed. It is possible that, on review by a non-expert, a single forearm bone could be difficult to identify and therefore it seems appropriate to include.Created: 11 May 2017, 2:11 p.m.
Comment on list classification: Sufficient casesCreated: 11 May 2017, 2:09 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 1:31 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ulnar-mammary syndrome 181450
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Other
- Phenotypes
-
- Ulnar-mammary syndrome, 181450
- Hypoplastic/absent/deformed radius
- OMIM
- 601621
- Clinvar variants
- Variants in TBX3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
23 May 2017, Gel status: 4
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
11 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Dec 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)TBX3 was added to Radial dysplasiapanel. Source: Expert list
5 Dec 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)TBX3 was added to Radial dysplasiapanel. Sources: Other
5 Dec 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)TBX3 was created by rfoulger