Familial non syndromic congenital heart disease
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, 4:43 p.m. | Last Modified: 4 Jun 2024, 4:43 p.m.

Panel Version: 1.84

Created: 4 Jun 2024, 4:43 p.m.
Last Modified: 4 Jun 2024, 4:43 p.m.
Panel version: 1.84

Alice Gardham (Genomics England)

I don't know

Identified in at least three families. Recognised on G2P. Testing offered in a small number of labs in Europe
May have loss of function and gain of function mutations
Created: 28 Nov 2016, 4:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 4 611363

Publications

17668378, 19762328

Mode of pathogenicity
Other

Created: 28 Nov 2016, 4:11 p.m.

Panel version: 0.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

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

Complete

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene