CAKUT
Gene: ACTA2
ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 13 panels
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.
Helen Stuart (University of Manchester)
Early on phenocopy PUV.Created: 18 Oct 2015, 9:21 p.m.
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
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- DDG2P
- Thoracic aortic aneurysm or dissection
- Gastrointestinal neuromuscular disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
- Pneumothorax - familial
- Intellectual disability
- CAKUT
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