Congenital Heart Defect

Gene: GATA4

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429

Green List (high evidence)

GATA4 is a zinc finger transcription factor involved in gene expression and is important for heart development. It has a "definitive" classification on ClinGen.
• Garg et al identified a G296S missense mutation of GATA4 in all affected family members in a large pedigree, and no unaffected members or controls. PMID 12845333
• Yang et al found 3 novel heterozygous variants in 52 probands of Tetraology of fallot. The variants all segregated with disease with complete penetrance. Functional analysis showed that the GATA4 mutants were consistently associated with diminished DNA-binding affinity and decreased transcriptional activity PMID 24000169.
Sixteen unique variants (missense, nonsense, frameshift) that have been reported in sixteen probands in seven publications (PMIDs: 15810002, 12845333, 22101736, 18672102, 24000169, 29377543, 28991257) are included in the ClinGen curation.

Created: 26 Nov 2023, 2:59 a.m. | Last Modified: 26 Nov 2023, 2:59 a.m.

Panel Version: 0.406

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease - multiple types

Publications

• 15810002
• 12845333
• 22101736
• 18672102
• 24000169
• 29377543
• 28991257