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Thoracic aortic aneurysm or dissection (GMS) v0.60 | SMAD6 | Ivone Leong Phenotypes for gene: SMAD6 were changed from to Aortic valve disease 2 614823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.59 | SMAD6 | Ivone Leong Publications for gene: SMAD6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.58 | SMAD6 | Ivone Leong Mode of inheritance for gene: SMAD6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.56 | SMAD6 |
Ivone Leong Source Expert Review Green was added to SMAD6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Thoracic aortic aneurysm or dissection (GMS) v0.55 | SMAD6 | Kate Thomson reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.35 | SMAD6 | Ivone Leong reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.34 | SMAD6 |
Ivone Leong Source NHS GMS was added to SMAD6. Source Expert Review Amber was added to SMAD6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Thoracic aortic aneurysm or dissection (GMS) v0.32 | SMAD6 | James Eden reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: None; Publications: 30796334, 28659821, 30963242; Phenotypes: Aortic valve disease 2 614823; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.0 | SMAD6 |
Ellen McDonagh gene: SMAD6 was added gene: SMAD6 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: SMAD6 was set to |