Incidentalome
Gene: ACTA2
DEFINITIVE by ClinGen.Created: 10 Aug 2022, 4:01 a.m. | Last Modified: 10 Aug 2022, 4:01 a.m.
Panel Version: 0.93
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 6, MIM# 611788; Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
Publications
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
Gene: acta2 has been classified as Green List (High Evidence).
Tag cardiac tag was added to gene: ACTA2.
Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788; Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
Publications for gene: ACTA2 were set to
Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: ACTA2 was added gene: ACTA2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACTA2 was set to Unknown