Limb disorders
Gene: TBX3

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.

Created: 11 May 2017, 2:09 p.m.

Panel version: Imported from Radial dysplasia panel version 0.149

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.

Created: 12 Jul 2016, 1:31 p.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.613

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

Created: 17 Jun 2016, 8:08 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Victorian Clinical Genetics Services
Emory Genetics Laboratory
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green
London South East RGC GSTT
Viapath

Phenotypes

Ulnar-mammary syndrome 181450
Polydactyly
Ulnar-mammary syndrome, 181450
Radial Ray abnormality
Hypoplastic/absent/deformed radius

OMIM

601621

Clinvar variants

Variants in TBX3

Penetrance

None

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

16 Oct 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene TBX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Ulnar-mammary syndrome, 181450; Hypoplastic/absent/deformed radius for gene: TBX3

13 Aug 2018, Gel status: 4