Paediatric pseudo-obstruction syndrome
Gene: ACTA2
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
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
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
Gene: acta2 has been classified as Green List (High Evidence).
Publications for gene: ACTA2 were set to
Phenotypes for gene: ACTA2 were changed from to Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Mode of inheritance for gene: ACTA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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