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  3. ACTA2
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Stroke

Gene: ACTA2

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Condition reported with large artery atherosclerosis/non-atherosclerosis, small vessel disease, and cardio embolism due to morphologic defect stroke subtypes.
Sources: Literature
Created: 30 Apr 2020, 9:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multisystemic smooth muscle dysfunction syndrome MIM#613834

Publications

Created: 30 Apr 2020, 9:01 a.m.

Panel version: 0.7

History Filter Activity

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acta2 has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acta2 has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACTA2 was added gene: ACTA2 was added to Stroke. Sources: Literature Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA2 were set to 20734336; 19409525; 30356112 Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome MIM#613834 Review for gene: ACTA2 was set to GREEN