Radial dysplasia
Gene: TBX5EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 10 panels
3 reviews
Helen Brittain (Genomics England Curator)
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
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, 1:35 p.m.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Holt-Oram syndrome,142900
- OMIM
- 601620
- Clinvar variants
- Variants in TBX5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for TBX5 were set to Holt-Oram syndrome,142900
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for TBX5 were set to 8730285
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for TBX5 were set to Holt-Oram syndrome 142900
Upload gene information
Rebecca Foulger (Genomics England curator)TBX5 was added to Radial dysplasiapanel. Sources: Expert list
Added New Source
Rebecca Foulger (Genomics England curator)TBX5 was added to Radial dysplasiapanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)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
Added New Source
Rebecca Foulger (Genomics England curator)TBX5 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Created
Rebecca Foulger (Genomics England curator)TBX5 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)TBX5 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing