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| Gastrointestinal neuromuscular disorders v1.23 | ACTA2 | Arina Puzriakova Phenotypes for gene: ACTA2 were changed from Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 to Multisystemic smooth muscle dysfunction syndrome, OMIM:613834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.22 | ACTA2 | Arina Puzriakova Classified gene: ACTA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.22 | ACTA2 | Arina Puzriakova Gene: acta2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.15 | ACTA2 |
Zornitza Stark 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 Added comment: 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 Review |
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