Limb disorders
Gene: TBX5PMID: 31373354 Xu et al 2020 - mouse model with Tbx5 conditional knockdown in Hh-receiving cells during E8 to E10.5 suggest Tbx5 is required for digit identity in a subset of limb mesenchymal cells.Created: 30 Jun 2020, 3:02 p.m. | Last Modified: 30 Jun 2020, 3:02 p.m.
Panel Version: 2.10
Publications
Comment when marking as ready: Appropriate phenotypic spectrum; Above PMID: Limb defects were found in all affected persons. The thumb was the most commonly affected structure, although in 7 of 44 cases, the thumbs were normal. In most cases, the thumb defects (absence in 19/44, hypoplasia in 17/44, triphalangeal thumbs in 8/44) were associated with hypoplastic thenar or limited supination of the forearm. Radial hypoplasia (18/44) was more frequent than absence of radius (10/44). Ulnar hypoplasia occurred only in patients with radial defects. Clear causation.Created: 11 May 2017, 10:09 a.m.
Clear causation. Spectrum of no radial defect, thumb anomalies inc. triphalangeal to radial hypoplasia or aplasia. See above PMIDCreated: 11 May 2017, 7:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holt-Oram syndrome 142900
Publications
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 1:35 p.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holt-Oram syndrome 142900
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: TBX5 were set to 8730285
Ana Beleza: Tier 2
Mode of inheritance for gene TBX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Holt-Oram syndrome,142900 for gene: TBX5 Publications for gene TBX5 were changed from to 8730285
Phenotypes for gene TBX5 were set to Holt-Oram syndrome 142900, Polydactyly, Radial Ray abnormality
Victorian Clinical Genetics Services was added to TBX5. Panel: Limb disorders Phenotypes for gene TBX5 were set to Holt-Oram syndrome 142900, Polydactyly
Illumina TruGenome Clinical Sequencing Services was added to TBX5. Panel: Limb disorders Expert list was added to TBX5. Panel: Limb disorders Emory Genetics Laboratory was added to TBX5. Panel: Limb disorders Expert Review Green was added to TBX5. Panel: Limb disorders UKGTN was added to TBX5. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to TBX5. Panel: Limb disorders Model of inheritance for gene TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to TBX5. Panel: Limb disorders
TBX5 was added to Limb disorders panel. Sources: Viapath
TBX5 was created by Ellen McDonagh