Dilated Cardiomyopathy and conduction defects
Gene: TBX20

TBX20 (T-box 20)
EnsemblGeneIds (GRCh38): ENSG00000164532
EnsemblGeneIds (GRCh37): ENSG00000164532
OMIM: 606061, Gene2Phenotype
TBX20 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Three TBX20 variants have been associated with Atrial septal defect 4, in OMIM and Gen2Phen (PMID:17668378; 19762328) and seven TBX20 variants have been associated with Left ventricular noncompaction (LVNC)(PMID:37657916; 29089047; 35282022).
Created: 4 Jun 2024, 4:42 p.m. | Last Modified: 4 Jun 2024, 4:42 p.m.

Panel Version: 1.90

Created: 4 Jun 2024, 4:42 p.m.
Last Modified: 4 Jun 2024, 4:42 p.m.
Panel version: 1.90

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: 1.46

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
London South GLH

Phenotypes

Atrial septal defect 4, OMIM:611363
atrial septal defect 4, MONDO:0012654
Dilated cardiomyopathy, MONDO:0005021

OMIM

606061

Clinvar variants

Variants in TBX20

Penetrance

None

Publications

Panels with this gene