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Thoracic aortic aneurysm or dissection v1.112 SMAD2 Louise Daugherty Tag watchlist was removed from gene: SMAD2.
Thoracic aortic aneurysm or dissection v1.112 SMAD2 Louise Daugherty commented on gene: SMAD2
Thoracic aortic aneurysm or dissection v1.90 SMAD2 Rebecca Whittington commented on gene: SMAD2: No OMIM association; HGMD Loeys-Dietz syndrome
Thoracic aortic aneurysm or dissection v1.89 SMAD2 Rebecca Whittington commented on gene: SMAD2: Schepers et al 2018 Hum Mutat 39:621 PMID:29392890 review variants in TGFB2/3 and SMAD2/3 in LDS, listing 6 likely pathogenic variants from this and previous studies. All missense variants to date
Thoracic aortic aneurysm or dissection v1.89 SKI Rebecca Whittington commented on gene: SKI: Doyle et al 2012 Nat Genet 44:1249 PMID:23023332 characterise several missense variants which are mostly de-novo and cluster in the SMAD2/3 binding domain and Dachshund-homology domain essential for co-repressor recrutiment. Functional analysis showed loss of repression of TGF-B signalling cascades in patient fibroblasts heterozygous for variants.
Thoracic aortic aneurysm or dissection v1.88 SMAD2 Rebecca Whittington reviewed gene: SMAD2: 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 SMAD2 Ellen McDonagh Source South West GLH was added to SMAD2.
Mode of inheritance for gene SMAD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.86 SMAD2 Ellen McDonagh reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.85 SMAD2 Ellen McDonagh Source London South GLH was added to SMAD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection SMAD2 Helen Brittain marked SMAD2 as ready
Thoracic aortic aneurysm or dissection SMAD2 Helen Brittain classified SMAD2 as green
Thoracic aortic aneurysm or dissection SMAD2 Helen Brittain reviewed SMAD2
Thoracic aortic aneurysm or dissection SMAD2 Rebecca Foulger commented on SMAD2
Thoracic aortic aneurysm or dissection SMAD2 Rebecca Foulger added SMAD2 to panel
Thoracic aortic aneurysm or dissection SMAD2 Rebecca Foulger reviewed SMAD2