Incidentalome
Gene: ACTA2

ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 10 Aug 2022, 4:01 a.m. | Last Modified: 10 Aug 2022, 4:01 a.m.

Panel Version: 0.93

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 6, MIM# 611788; Multisystemic smooth muscle dysfunction syndrome, MIM# 613834

Publications

30724374

Created: 10 Aug 2022, 4:01 a.m.
Last Modified: 10 Aug 2022, 4:01 a.m.
Panel version: 0.93

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30724374; Classified as definitive by Clingen (Assertion made by the Aortopathy working group.)
Created: 25 Jun 2020, 12:59 a.m. | Last Modified: 25 Jun 2020, 12:59 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hereditary thoracic aortic aneurysm and dissection

Publications

PMID: 30724374

Created: 25 Jun 2020, 12:59 a.m.
Last Modified: 25 Jun 2020, 12:59 a.m.
Panel version: Imported from Aortopathy_Connective Tissue Disorders panel version 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Aortic aneurysm, familial thoracic 6, MIM# 611788
Multisystemic smooth muscle dysfunction syndrome, MIM# 613834

Tags

cardiac

OMIM

102620

Clinvar variants

Variants in ACTA2

Penetrance

None

Publications

30724374

Panels with this gene