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Thoracic aortic aneurysm or dissection (GMS) v4.4 SMAD6 Eleanor Williams Tag Q2_25_ demote_red was removed from gene: SMAD6.
Tag Q2_25_expert_review was removed from gene: SMAD6.
Tag Q2_25_ NHS_review was removed from gene: SMAD6.
Thoracic aortic aneurysm or dissection (GMS) v4.4 SMAD6 Eleanor Williams reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v4.3 SMAD6 Eleanor Williams Source Expert Review Red was added to SMAD6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Thoracic aortic aneurysm or dissection (GMS) v3.20 SMAD6 Sarah Leigh Tag Q2_25_expert_review tag was added to gene: SMAD6.
Thoracic aortic aneurysm or dissection (GMS) v3.20 SMAD6 Sarah Leigh reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: None; Publications: 39069920, 40133303; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v3.20 SMAD6 Sarah Leigh Tag Q2_25_ demote_red tag was added to gene: SMAD6.
Tag Q2_25_ NHS_review tag was added to gene: SMAD6.
Thoracic aortic aneurysm or dissection (GMS) v3.20 SMAD6 Sarah Leigh Publications for gene: SMAD6 were set to 30796334; 28659821; 30963242
Thoracic aortic aneurysm or dissection (GMS) v3.19 SMAD6 Ian Berry reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: None; Publications: PMID:22275001, 30796334, 28659821, 36414630); Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.60 SMAD6 Ivone Leong Phenotypes for gene: SMAD6 were changed from to Aortic valve disease 2 614823
Thoracic aortic aneurysm or dissection (GMS) v0.59 SMAD6 Ivone Leong Publications for gene: SMAD6 were set to
Thoracic aortic aneurysm or dissection (GMS) v0.58 SMAD6 Ivone Leong Mode of inheritance for gene: SMAD6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection (GMS) v0.56 SMAD6 Ivone Leong Source Expert Review Green was added to SMAD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.55 SMAD6 Kate Thomson reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.35 SMAD6 Ivone Leong reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.34 SMAD6 Ivone Leong Source NHS GMS was added to SMAD6.
Source Expert Review Amber was added to SMAD6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.32 SMAD6 James Eden reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: None; Publications: 30796334, 28659821, 30963242; Phenotypes: Aortic valve disease 2 614823; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection (GMS) v0.0 SMAD6 Ellen McDonagh gene: SMAD6 was added
gene: SMAD6 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to