Congenital Heart Defect
Gene: TBX1

TBX1 (T-box 1)
EnsemblGeneIds (GRCh38): ENSG00000184058
EnsemblGeneIds (GRCh37): ENSG00000184058
OMIM: 602054, Gene2Phenotype
TBX1 is in 10 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

TBX1 is the critical gene, thought to contribute to most of the phenotype associated with DiGeorge syndrome.
Haploinsufficiency of TBX1 results in cardiac anomalies; Truncating and gain of function variants have been reported in patients without cardiac defects.

At least 3 conotruncal heart defect patients reported with loss of function variants

ClinGen: "Some evidence for dosage pathogenicity". TBX1 mutations are responsible for several components of the del22q11.2 syndrome, particularly cardiac defects (last evaluated 2012)
Created: 24 Aug 2020, 4:07 a.m. | Last Modified: 24 Aug 2020, 4:07 a.m.

Panel Version: 0.56

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

Phenotypes
DiGeorge syndrome (MIM#188400)

Publications

Mode of pathogenicity
Other

Created: 24 Aug 2020, 4:07 a.m.
Last Modified: 24 Aug 2020, 4:07 a.m.
Panel version: 0.56

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

DiGeorge syndrome (MIM#188400)

OMIM

602054

Clinvar variants

Variants in TBX1

Penetrance

None

Publications

Panels with this gene