Congenital Heart Defect
Gene: ACTC1

ACTC1 (actin, alpha, cardiac muscle 1)
EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 12 panels

3 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

5 new families (8 individuals) with a distral arthrogryposis phenotype:
multiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy.
All missense variants
Atrial septal defect in 5 individuals, ventricular septal defect in 1 individual
Created: 6 Apr 2023, 2:29 a.m. | Last Modified: 6 Apr 2023, 2:29 a.m.

Panel Version: 0.277

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 5 MIM#612794

Publications

PMID: 36945405

Created: 6 Apr 2023, 2:29 a.m.
Last Modified: 6 Apr 2023, 2:29 a.m.
Panel version: 0.277

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

ASD and VSD without cardiomyopathy reported in seven unrelated families, two with the founder mutation M123V, four with E101K mutation and one with 17-bp deletion. Morpholino knockdown of ACTC1 in chick embryos produces delayed looping and reduced atrial septa, supporting a cardiac developmental role for this protein.
Created: 29 Jun 2022, 5:29 a.m. | Last Modified: 29 Jun 2022, 5:29 a.m.

Panel Version: 0.217

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect; Ventricular septal defect

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Jun 2022, 5:29 a.m.
Last Modified: 29 Jun 2022, 5:29 a.m.
Panel version: 0.217

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

E101K is multiply reported as pathogenic/likely pathogenic for HCM rather than CHD in ClinVar.

The 17bp deletion was inherited from a parent, with a very questionable affected status (posteriorly deviated interventricular septum).
Created: 29 Jun 2022, 7:10 a.m. | Last Modified: 29 Jun 2022, 7:10 a.m.

Panel Version: 0.217

Three families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies.

Two of the families had the same founder variant.
Created: 15 Oct 2020, 10:04 a.m. | Last Modified: 13 Dec 2021, 10:44 p.m.

Panel Version: 0.162

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 5, MIM# 612794

Publications

Created: 15 Oct 2020, 10:04 a.m.
Last Modified: 13 Dec 2021, 10:44 p.m.
Panel version: 0.217

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Atrial septal defect 5, MIM# 612794

Tags

founder

OMIM

102540

Clinvar variants

Variants in ACTC1

Penetrance

None

Publications

Panels with this gene