Congenital Heart Defect
Gene: GDF1

GDF1 (growth differentiation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000130283
EnsemblGeneIds (GRCh37): ENSG00000130283
OMIM: 602880, Gene2Phenotype
GDF1 is in 12 panels

1 review

Ting Chan (University of Melbourne Centre for Cancer Research)

Green List (high evidence)

At least 6 families reported with the biallelic variants and a null mouse model with a spectrum of defects related to left-right axis formation, including visceral situs inversus, right pulmonary isomerism, and a range of cardiac anomalies (PMID: 10700179).
Created: 30 Oct 2023, 5:13 a.m. | Last Modified: 30 Oct 2023, 5:13 a.m.

Panel Version: 0.300

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital heart defects, multiple types, 6 MIM#613854

Publications

Created: 30 Oct 2023, 5:13 a.m.
Last Modified: 30 Oct 2023, 5:13 a.m.
Panel version: 0.300

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital heart defects, multiple types, 6 MIM#613854

OMIM

602880

Clinvar variants

Variants in GDF1

Penetrance

None

Publications

Panels with this gene