Limb disorders
Gene: TBX3Comment 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.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 1:31 p.m.
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
Ana Beleza: Tier 2
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
Phenotypes for gene TBX3 were set to Ulnar-mammary syndrome 181450, Polydactyly, Radial Ray abnormality
Victorian Clinical Genetics Services was added to TBX3. Panel: Limb disorders Phenotypes for gene TBX3 were set to Ulnar-mammary syndrome 181450, Polydactyly
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
London South East RGC GSTT was added to TBX3. Panel: Limb disorders
TBX3 was added to Limb disorders panel. Sources: Viapath
TBX3 was created by Ellen McDonagh