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| Thoracic aortic aneurysm or dissection (GMS) v0.50 | NOTCH1 | Ivone Leong Publications for gene: NOTCH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | NOTCH1 | Ivone Leong reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.34 | NOTCH1 |
Ivone Leong Source Expert Review Green was added to NOTCH1. Source NHS GMS was added to NOTCH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.30 | NOTCH1 | James Eden reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29907982, 18593716; Phenotypes: Aortic valve disease 1 109730, Adams-Oliver syndrome 5 616028; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | NOTCH1 | Matthew Edwards reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16729972, 26820064; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | NOTCH1 |
Ellen McDonagh gene: NOTCH1 was added gene: NOTCH1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH1 were set to Aortic valve disease 1, 109730 |
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