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| Thoracic aortic aneurysm or dissection v1.121 | SMAD3 | Eleanor Williams commented on gene: SMAD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.92 | SMAD3 | Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.90 | SMAD3 | Rebecca Whittington commented on gene: SMAD3: 613795 Loeys-Dietz syndrome; well characterised gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | SMAD3 | Rebecca Whittington reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | SMAD3 |
Ellen McDonagh Source South West GLH was added to SMAD3. Mode of inheritance for gene SMAD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Thoracic aortic aneurysm or dissection v1.86 | SMAD3 | Ellen McDonagh edited their review of gene: SMAD3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.85 | SMAD3 | Ellen McDonagh Source London South GLH was added to SMAD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.84 | SMAD3 | James Eden reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21217753, 29392890; Phenotypes: Loeys Dietz syndrome, type 3 (613795) ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.83 | SMAD3 |
Ellen McDonagh Source North West GLH was added to SMAD3. Added phenotypes Loeys Dietz syndrome, type 3 (613795) for gene: SMAD3 Publications for gene SMAD3 were changed from to 21217753; 29392890 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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