Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Thoracic aortic aneurysm or dissection (GMS) v0.35 CHST14 Ivone Leong reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.32 CHST14 James Eden reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 CHST14 Ellen McDonagh gene: CHST14 was added
gene: CHST14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal