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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | SMAD4 |
Ivone Leong Source Expert Review Green was added to SMAD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.55 | SMAD4 | Kate Thomson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SMAD4 | Ivone Leong reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD4 | James Eden reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050, Myhre syndrome 139210, Pancreatic cancer, somatic 260350, Polyposis, juvenile intestinal 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD4 | Matthew Edwards reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25931195; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | SMAD4 | Alison Callaway reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24424121, 25931195; Phenotypes: Myhre syndrome; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SMAD4 |
Ellen McDonagh gene: SMAD4 was added gene: SMAD4 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 |
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