This Panel is marked as Internal
Moyamoya disease
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
1 review
Ellen McDonagh (Genomics England Curator)
Gene is a DD and IF gene for moyamoya disease and aortic aneurysm.Created: 22 Apr 2016, 11 a.m.
Sourced from OMIM.Created: 8 Jan 2016, 2:05 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Other
- Phenotypes
-
- Moyamoya disease 5
- Moyamoya Disease
- Moyamoya disease 5,614042
- Aortic aneurysm familial thoracic 6,611788
- Multisystemic smooth muscle dysfunction syndrome,613834
- OMIM
- 102620
- Clinvar variants
- Variants in ACTA2
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Unexplained young onset end-stage renal disease - additional genes
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- DDG2P
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
History Filter Activity
1 Apr 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)ACTA2 was added to Moyamoya diseasepanel. Source: Radboud University Medical Center, Nijmegen
1 Apr 2016, Gel status: 1
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)ACTA2 was added to Moyamoya diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
8 Jan 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ACTA2 was created by ellenmcdonagh
8 Jan 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ACTA2 was added to Moyamoya diseasepanel. Sources: Other