Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Thoracic aortic aneurysm or dissection (GMS) v0.35 COL9A3 Ivone Leong reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.32 COL9A3 James Eden reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: None; Publications: 24765306; Phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL9A3 Ellen McDonagh gene: COL9A3 was added
gene: COL9A3 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted