Congenital Heart Defect
Gene: ACVR1

ACVR1 (activin A receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

One individual with CHD and de novo variant reported in PMID 29089047.

Gene previously known as ALK2. Two missense reported in 2009 in PMID 19506109, and another in PMID 21248739 in an individual with T21.
Created: 16 Jul 2022, 8:48 a.m. | Last Modified: 16 Jul 2022, 8:48 a.m.

Panel Version: 0.230

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease, MONDO:0005453

Publications

Created: 16 Jul 2022, 8:48 a.m.
Last Modified: 16 Jul 2022, 8:48 a.m.
Panel version: 0.230

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital heart disease, MONDO:0005453

OMIM

102576

Clinvar variants

Variants in ACVR1

Penetrance

None

Publications

Panels with this gene