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  3. ACTA2
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Unexplained young onset end-stage renal disease - additional genes

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 13 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Is currently red on all renal panels.
Created: 25 Sep 2019, 1:20 p.m. | Last Modified: 25 Sep 2019, 1:20 p.m.
Panel Version: 0.43
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Red
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

History Filter Activity

28 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ACTA2 were changed from Multi system smooth muscle dysfunction to Smooth muscle dysfunction syndrome, OMIM:613834

27 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Multi system smooth muscle dysfunction for gene: ACTA2

25 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ACTA2 was added gene: ACTA2 was added to Unexplained young onset end-stage renal disease - additional genes. 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