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| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ACTA2 | Ivone Leong reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | ACTA2 | Matthew Edwards reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.13 | ACTA2 | Ivone Leong Publications for gene: ACTA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | ACTA2 | Alison Callaway reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ACTA2 |
Ellen McDonagh gene: ACTA2 was added gene: ACTA2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, 611788; Aortic aneurysm, familial thoracic 6 (611788); Thoracic aortic aneurysm and dissection; Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5 (614042); Thoracic Aortic Aneurysms and Aortic Dissections; Multisystemic smooth muscle dysfunction syndrome (613834); Moyamoya disease 5, 614042; Isolated familial thoracic aortic aneurysms and dissection |
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