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  3. TBX5
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Progressive cardiac conduction disease

Gene: TBX5

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

5 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Created: 2 Dec 2019, 10:38 a.m.
Last Modified: 2 Dec 2019, 10:38 a.m.
Panel version: 0.30

James Eden (Manchester)

I don't know

Conduction disease appears to be a symptom of Holt-Oram syndrome.
Created: 25 Sep 2019, 3:01 p.m. | Last Modified: 25 Sep 2019, 3:01 p.m.
Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holt-Oram syndrome 142900

Publications

Created: 25 Sep 2019, 3:01 p.m.
Last Modified: 25 Sep 2019, 3:01 p.m.
Panel version: 0.28

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Pathogenic variants cause Holt-Oram syndrome .Conduction defects reported without other cardiac features, but all patients should have radial ray abnormalities
Created: 23 Sep 2019, 2:24 p.m. | Last Modified: 23 Sep 2019, 2:24 p.m.
Panel Version: 0.28

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Sep 2019, 2:24 p.m.
Last Modified: 23 Sep 2019, 2:24 p.m.
Panel version: 0.28

Rebecca Whittington (South West GLH)

Green List (high evidence)

Holt-Oram syndrome (142900)
Created: 25 Mar 2019, 4:30 p.m.
Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 0.18

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
  • London South GLH
Phenotypes
  • Holt-Oram syndrome, OMIM:142900
OMIM
601620
Clinvar variants
Variants in TBX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome 142900 to Holt-Oram syndrome, OMIM:142900

2 Dec 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome 142900

2 Dec 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TBX5 were set to

4 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbx5 has been classified as Amber List (Moderate Evidence).

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TBX5. Mode of inheritance for gene TBX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TBX5 was added gene: TBX5 was added to Progressive cardiac conduction disease. Sources: London South GLH Mode of inheritance for gene: TBX5 was set to