Unexplained kidney failure in young people
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review
- Expert Review Red
- Phenotypes
-
- Multi system smooth muscle dysfunction
- OMIM
- 102620
- Clinvar variants
- Variants in ACTA2
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Thoracic aortic aneurysm or dissection
- Unexplained young onset end-stage renal disease - additional genes
- Gastrointestinal neuromuscular disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Paediatric pseudo-obstruction syndrome
- Intellectual disability
- Fetal anomalies
- Cerebral vascular malformations
- DDG2P
- Pneumothorax - familial
- CAKUT
History Filter Activity
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
18 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)ACTA2 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert Review,Expert Review Red
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ACTA2 was created by sleigh