Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Thoracic aortic aneurysm or dissection (GMS) v1.15 SMAD3 Eleanor Williams commented on gene: SMAD3
Thoracic aortic aneurysm or dissection (GMS) v0.35 SMAD3 Ivone Leong reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.30 SMAD3 Matthew Edwards reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 613795 Loeys-Dietz syndrome type 3; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.15 SMAD3 Ivone Leong Publications for gene: SMAD3 were set to
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD3 Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD3 Alison Callaway Deleted their review
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD3 Alison Callaway Deleted their comment
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD3 Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.0 SMAD3 Ellen McDonagh gene: SMAD3 was added
gene: SMAD3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys Dietz syndrome, type 3 (613795); Loeys Dietz syndrome, type 3, 613795