Aortopathy_Connective Tissue Disorders
Gene: ACTA2EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 15 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30724374; Classified as definitive by Clingen (Assertion made by the Aortopathy working group.)Created: 25 Jun 2020, 12:59 a.m. | Last Modified: 25 Jun 2020, 12:59 a.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hereditary thoracic aortic aneurysm and dissection
Publications
- PMID: 30724374
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Aortic aneurysm, familial thoracic 6, MIM# 611788
- OMIM
- 102620
- Clinvar variants
- Variants in ACTA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Leukodystrophy - adult onset
- Additional findings_Adult
- 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
- Aortopathy_Connective Tissue Disorders
- Cerebral vascular malformations
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acta2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ACTA2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACTA2 was set to Unknown