Radial dysplasia

Gene: TBX5

Green List (high evidence)

TBX5 (T-box 5)
EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 10 panels

3 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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 PMID
Created: 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)

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
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

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for TBX5 were set to Holt-Oram syndrome,142900

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 3

Set publications

Helen Brittain (Genomics England Curator)

Publications for TBX5 were set to 8730285

11 May 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for TBX5 were set to Holt-Oram syndrome 142900

6 Dec 2016, Gel status: 3

Upload gene information

Rebecca Foulger (Genomics England curator)

TBX5 was added to Radial dysplasiapanel. Sources: Expert list

13 Oct 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

TBX5 was added to Radial dysplasiapanel. Source: UKGTN

13 Oct 2016, Gel status: 2

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

13 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

TBX5 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen

13 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TBX5 was created by rfoulger

13 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TBX5 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing