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Gastrointestinal neuromuscular disease v0.44 | ACTA2 | Zornitza Stark Marked gene: ACTA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.44 | ACTA2 | Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.44 | ACTA2 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.43 | ACTA2 | Zornitza Stark Publications for gene: ACTA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.42 | ACTA2 | Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.41 | ACTA2 | Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20734336, 29300374; Phenotypes: Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.0 | ACTA2 |
Bryony Thompson 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 |