Gastrointestinal neuromuscular disorders
Gene: ACTA2EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 13 panels
1 review
Zornitza Stark (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.
Sources: Expert ReviewCreated: 30 Jul 2021, 8:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
- OMIM
- 102620
- Clinvar variants
- Variants in ACTA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- DDG2P
- Thoracic aortic aneurysm or dissection
- Gastrointestinal neuromuscular disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
- Pneumothorax - familial
- Intellectual disability
- CAKUT
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACTA2 were changed from Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 to Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: acta2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ACTA2 was added gene: ACTA2 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA2 were set to 20734336; 29300374 Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 Review for gene: ACTA2 was set to GREEN gene: ACTA2 was marked as current diagnostic