Radial dysplasia
Gene: TBX5
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for TBX5 were set to Holt-Oram syndrome,142900
This gene has been classified as Green List (High Evidence).
Publications for TBX5 were set to 8730285
Phenotypes for TBX5 were set to Holt-Oram syndrome 142900
TBX5 was added to Radial dysplasiapanel. Sources: Expert list
TBX5 was added to Radial dysplasiapanel. Source: UKGTN
TBX5 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TBX5 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
TBX5 was created by rfoulger
TBX5 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing