Cerebral vascular malformations
Gene: ACTA2

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Reported in >3 unrelated families with a moya-moya like cerebral vascular disease however only two variants have been reported in individuals with cerebral vascular malformations in ACTA2.
(R179H and R258C/H both are rare or absent in gnomAD v4.1)
Created: 18 Nov 2024, 12:11 a.m. | Last Modified: 18 Nov 2024, 12:11 a.m.

Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Moyamoya disease 5 MONDO:0013542

Publications

Created: 18 Nov 2024, 12:11 a.m.
Last Modified: 18 Nov 2024, 12:11 a.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

Multisystemic smooth muscle dysfunction syndrome,613834
Aortic aneurysm familial thoracic 6,611788
Moyamoya Disease
Moyamoya disease 5
Moyamoya disease 5,614042

OMIM

102620

Clinvar variants

Variants in ACTA2

Penetrance

None

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACTA2 was added gene: ACTA2 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome,613834; Aortic aneurysm familial thoracic 6,611788; Moyamoya Disease; Moyamoya disease 5; Moyamoya disease 5,614042

Cerebral vascular malformations Gene: ACTA2