Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Thoracic aortic aneurysm or dissection (GMS) v0.51 | PRKG1 | Ivone Leong Publications for gene: PRKG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.35 | PRKG1 | Ivone Leong reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.34 | PRKG1 |
Ivone Leong Source Expert Review Green was added to PRKG1. Source NHS GMS was added to PRKG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.30 | PRKG1 | James Eden reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910461, 30577811; Phenotypes: Aortic aneurysm, familial thoracic 8 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.30 | PRKG1 | Matthew Edwards reviewed gene: PRKG1: Rating: ; Mode of pathogenicity: None; Publications: 23910461, 27442293; Phenotypes: OMIM 615436 Aortic aneurysm, familial thoracic 8; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection (GMS) v0.0 | PRKG1 |
Ellen McDonagh gene: PRKG1 was added gene: PRKG1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, 615436 |