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Congenital Heart Defect
Gene: TBX20

TBX20 (T-box 20)
EnsemblGeneIds (GRCh38): ENSG00000164532
EnsemblGeneIds (GRCh37): ENSG00000164532
OMIM: 606061, Gene2Phenotype
TBX20 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, functional data links gene to heart development.
Created: 24 Nov 2023, 2:19 a.m. | Last Modified: 24 Nov 2023, 2:19 a.m.

Panel Version: 0.383

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 4, MIM# 611363

Publications

Created: 24 Nov 2023, 2:19 a.m.
Last Modified: 24 Nov 2023, 2:19 a.m.
Panel version: 0.383

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Atrial septal defect 4, MIM# 611363

OMIM

Clinvar variants

Variants in TBX20

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx20 has been classified as Green List (High Evidence).

24 Nov 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, MIM# 611363

24 Nov 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX20 were set to

24 Nov 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBX20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX20 was added gene: TBX20 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX20 was set to Unknown