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 9 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

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

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

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