Renal and urinary tract disorders
Gene: ACTA2

ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 13 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene is a DD and IF gene for moyamoya disease and aortic aneurysm.
Created: 22 Apr 2016, 10:59 a.m.

Comment on list classification: Gene added by reviewer.
Created: 22 Apr 2016, 10:58 a.m.

Created: 22 Apr 2016, 10:58 a.m.

Panel version: Imported from CAKUT panel version 0.80

Helen Stuart (University of Manchester)

Green List (high evidence)

Early on phenocopy PUV.
Created: 18 Oct 2015, 9:21 p.m.

Created: 18 Oct 2015, 9:21 p.m.

Panel version: Imported from CAKUT panel version 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red

Phenotypes

Multi system smooth muscle dysfunction

OMIM

102620

Clinvar variants

Variants in ACTA2

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Stuart: Early on phenocopy PUV.

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multi system smooth muscle dysfunction for gene: ACTA2

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ACTA2 was added gene: ACTA2 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Multi system smooth muscle dysfunction

Renal and urinary tract disorders Gene: ACTA2