Radial dysplasia

Gene: TBX3

Green List (high evidence)

TBX3 (T-box 3)
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 cases
Created: 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)

Green List (high evidence)

Tier 2
Created: 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