Activity
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | SMAD2 |
Ivone Leong Source Expert Review Green was added to SMAD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.55 | SMAD2 | Kate Thomson reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SMAD2 | Ivone Leong reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD2 | James Eden reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD2 | Matthew Edwards changed review comment from: On CCGL Royal Brompton panel currently. Some good evidence in PMID: 26247899. PMID 29392890 describes variants classified in paper as likely pathogenic causing Loeys-Dietz syndrome, with aortic and aortic root aneurysm and arterial dissection and tortuosity; to: On CGGL Royal Brompton panel currently. Some good evidence in PMID: 26247899. PMID 29392890 describes variants classified in paper as likely pathogenic causing Loeys-Dietz syndrome, with aortic and aortic root aneurysm and arterial dissection and tortuosity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD2 | Matthew Edwards reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26247899, 29392890; Phenotypes: Loeys-Dietz syndrome (not in OMIM); Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SMAD2 |
Ellen McDonagh gene: SMAD2 was added gene: SMAD2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD2 were set to arterial aneurysms and dissections |
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