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Limb disorders

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
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Holt-Oram syndrome,142900
  • Polydactyly
  • Holt-Oram syndrome 142900
  • Radial Ray abnormality
OMIM
601620
Clinvar variants
Variants in TBX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

16 Oct 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

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

13 Aug 2018, Gel status: 4

Set penetrance

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene TBX5 were set to Holt-Oram syndrome 142900, Polydactyly, Radial Ray abnormality

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TBX5. Panel: Limb disorders Phenotypes for gene TBX5 were set to Holt-Oram syndrome 142900, Polydactyly

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to TBX5. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBX5 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TBX5 was created by Ellen McDonagh