Fetal anomalies
Gene: ACTC1

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

5 new families (8 individuals) with a distral arthrogryposis phenotype (PMID: 36945405)
multiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy
CHD included ASD, 1x VSD
facial features: microretrognathia, ptosis, downslanting palpebral fissures, low-set ears, and a long nasal bridge
All missense variants
Created: 6 Apr 2023, 2:52 a.m. | Last Modified: 6 Apr 2023, 2:52 a.m.

Panel Version: 1.93

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 5 MIM#612794; Cardiomyopathy, dilated, 1R MIM#613424; Cardiomyopathy, hypertrophic, 11 MIM#612098; ACTC1 related distal arthrogryposis MONDO:0019942

Publications

PMID: 36945405

Created: 6 Apr 2023, 2:52 a.m.
Last Modified: 6 Apr 2023, 2:52 a.m.
Panel version: 1.93

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established association with cardiomyopathies. Four families reported with ASD. Two had the same variant, founder.
Created: 28 Oct 2021, 8:01 a.m. | Last Modified: 13 Dec 2021, 10:48 p.m.

Panel Version: 0.1305

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, hypertrophic, 11 612098; Atrial septal defect

Publications

Created: 28 Oct 2021, 8:01 a.m.
Last Modified: 13 Dec 2021, 10:48 p.m.
Panel version: 0.33

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Atrial septal defect 5, MIM# 612794
Cardiomyopathy, hypertrophic, 11 MIM# 612098

OMIM

102540

Clinvar variants

Variants in ACTC1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: ACTC1 were changed from Atrial septal defect 5 612794; Cardiomyopathy, hypertrophic, 11 612098 to Atrial septal defect 5, MIM# 612794; Cardiomyopathy, hypertrophic, 11 MIM# 612098

28 Oct 2021, Gel status: 3