Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Thoracic aortic aneurysm or dissection (GMS) v0.56 FKBP14 Ivone Leong Source Expert Review Green was added to FKBP14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.55 FKBP14 Kate Thomson reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.40 FKBP14 Ivone Leong Phenotypes for gene: FKBP14 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557
Thoracic aortic aneurysm or dissection (GMS) v0.39 FKBP14 Ivone Leong Publications for gene: FKBP14 were set to
Thoracic aortic aneurysm or dissection (GMS) v0.35 FKBP14 Ivone Leong reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.34 FKBP14 Ivone Leong Source NHS GMS was added to FKBP14.
Source Expert Review Amber was added to FKBP14.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.32 FKBP14 James Eden reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22265013; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 FKBP14 Ellen McDonagh gene: FKBP14 was added
gene: FKBP14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal