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| Fetal anomalies v0.27 | ACTA2 | Zornitza Stark Marked gene: ACTA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.27 | ACTA2 | Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.27 | ACTA2 | Zornitza Stark Phenotypes for gene: ACTA2 were changed from AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5 to Multisystemic smooth muscle dysfunction syndrome - MIM# 613834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.26 | ACTA2 | Zornitza Stark Publications for gene: ACTA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.25 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.22 | ACTA2 |
Krithika Murali edited their review of gene: ACTA2: 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.; Changed rating: GREEN; Changed publications: 20734336, 29300374; Changed phenotypes: Multisystemic smooth muscle dysfunction syndrome - MIM# 613834 |
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| Fetal anomalies v0.22 | ACTA2 | Krithika Murali Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.22 | ACTA2 | Krithika Murali reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: None; Publications: 17994018; Phenotypes: Aortic aneurysm, familial thoracic 6 - 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACTA2 |
Zornitza Stark gene: ACTA2 was added gene: ACTA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTA2 were set to AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5 |
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