Gastrointestinal neuromuscular disease
Gene: ACTA2EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder.
More than 40 unrelated individuals reported, missense at p.Arg179 position.Created: 18 Jul 2021, 6:42 a.m. | Last Modified: 18 Jul 2021, 6:42 a.m.
Panel Version: 0.41
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
- Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
- OMIM
- 102620
- Clinvar variants
- Variants in ACTA2
- Penetrance
- None
- Publications
- 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
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 Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ACTA2 was added gene: ACTA2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTA2 were set to Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis