Incidentalome_PREGEN_DRAFT
Gene: ACTA2
ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 15 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
A cause of a Mendelian disorder that would usually present in adult life, but could have a treatmentCreated: 4 Dec 2020, 3:47 a.m. | Last Modified: 4 Dec 2020, 3:47 a.m.
Panel Version: 0.3
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NSW Health Pathology
- Expert Review Green
- OMIM
- 102620
- Clinvar variants
- Variants in ACTA2
- Penetrance
- None
- Panels with this gene
-
- Stroke
- Leukodystrophy - adult onset
- Incidentalome_PREGEN_DRAFT
- Gastrointestinal neuromuscular disease
- BabyScreen+ newborn screening
- Vasculitis
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Incidentalome
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Additional findings_Adult
- Aortopathy_Connective Tissue Disorders
- Cerebral vascular malformations
History Filter Activity
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ACTA2 was added gene: ACTA2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: ACTA2 was set to Unknown