Paediatric pseudo-obstruction syndrome
Gene: ACTA2EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 13 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Arina Puzriakova (Genomics England Curator)
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: 20 Dec 2022, 4:13 p.m. | Last Modified: 20 Dec 2022, 4:13 p.m.
Panel Version: 0.4
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Myopathic PIPO/MMIHS. Protein function: Encodes smooth muscle cell isoform of _-actin.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- 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
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: acta2 has been classified as Green List (High Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ACTA2 were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACTA2 were changed from to Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ACTA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ACTA2 was added gene: ACTA2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ACTA2 was set to