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  3. TBX3
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Progressive cardiac conduction disease

Gene: TBX3

Red List (low evidence)
TBX3 (T-box 3)
EnsemblGeneIds (GRCh38): ENSG00000135111
EnsemblGeneIds (GRCh37): ENSG00000135111
OMIM: 601621, Gene2Phenotype
TBX3 is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Comment on phenotypes: This gene is also associated with Ulnar-mammary syndrome 181450
Created: 2 Mar 2021, 3:56 p.m. | Last Modified: 2 Mar 2021, 3:56 p.m.
Panel Version: 1.37
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red 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)

Red List (low evidence)

Limited literature associating this gene with conduction disease.
Created: 2 Oct 2019, 10:01 a.m. | Last Modified: 2 Oct 2019, 10:01 a.m.
Panel Version: 0.28

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

Phenotypes
Ulnar-mammary syndrome 181450

Publications

Created: 2 Oct 2019, 10:01 a.m.
Last Modified: 2 Oct 2019, 10:01 a.m.
Panel version: 0.28

Rebecca Whittington (South West GLH)

I don't know

Ulnar-mammary syndrome (181450)
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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Heart conduction disease, MONDO:0000992
OMIM
601621
Clinvar variants
Variants in TBX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBX3 were changed from to Heart conduction disease, MONDO:0000992

2 Mar 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TBX3 were set to

4 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbx3 has been classified as Red List (Low Evidence).

4 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbx3 has been classified as Amber List (Moderate Evidence).

21 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TBX3 was added gene: TBX3 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted