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Limb disorders

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
  • 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

Set penetrance

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene TBX3 were set to Ulnar-mammary syndrome 181450, Polydactyly, Radial Ray abnormality

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TBX3. Panel: Limb disorders Phenotypes for gene TBX3 were set to Ulnar-mammary syndrome 181450, Polydactyly

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to TBX3. Panel: Limb disorders UKGTN was added to TBX3. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to TBX3. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to TBX3. Panel: Limb disorders Expert list was added to TBX3. Panel: Limb disorders Emory Genetics Laboratory was added to TBX3. Panel: Limb disorders Model of inheritance for gene TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to TBX3. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBX3 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TBX3 was created by Ellen McDonagh