Activity
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7 actions
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | ELN |
Ivone Leong Source Expert Review Green was added to ELN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.55 | ELN | Kate Thomson reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.38 | ELN | Ivone Leong Publications for gene: ELN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ELN | Ivone Leong reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | ELN | James Eden reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27866049, 23250899, 27080061, 16085695; Phenotypes: Cutis laxa, autosomal dominant 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | ELN | Matthew Edwards reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 123700 Cutis Laxa, 185500 supravalvar aortic stenosis; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ELN |
Ellen McDonagh gene: ELN was added gene: ELN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Supravalvar aortic stenosis, 185500; Cutis laxa, autosomal dominant, 123700 |
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