CAKUT

Gene: ACTA2

Red List (low evidence)

ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 14 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.

Helen Stuart (University of Manchester)

Green List (high evidence)

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

History Filter Activity

22 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 Oct 2015, Gel status: 0

Added New Source

Helen Stuart (University of Manchester)

ACTA2 was added to CAKUTpanel. Sources: Expert Review