Congenital Heart Defect
Gene: TFAP2B

TFAP2B (transcription factor AP-2 beta)
EnsemblGeneIds (GRCh38): ENSG00000008196
EnsemblGeneIds (GRCh37): ENSG00000008196
OMIM: 601601, Gene2Phenotype
TFAP2B is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established association with syndromic and non-syndromic PDA.
Created: 26 Mar 2022, 2:57 a.m. | Last Modified: 26 Mar 2022, 2:57 a.m.

Panel Version: 0.206

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035

Publications

Created: 26 Mar 2022, 2:57 a.m.
Last Modified: 26 Mar 2022, 2:57 a.m.
Panel version: 0.206

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Char syndrome, MIM# 169100
Patent ductus arteriosus 2, MIM# 617035

OMIM

601601

Clinvar variants

Variants in TFAP2B

Penetrance

None

Publications

Panels with this gene