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Thoracic aortic aneurysm or dissection v1.90 | PRKG1 | Rebecca Whittington commented on gene: PRKG1: 615436 FTAAD non-syndromic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.89 | PRKG1 | Rebecca Whittington commented on gene: PRKG1: Two disease-causing variants reported to HGMD, both published by Overwater et al 2018 Hum Mutat 39:1143 PMID:29907982 one missense variant and one in-frame deletion of exon 3. No segregation for either variant, but the missense variant c.530G>A p.(Arg177Gln) has been reported elsewhere (Guo et al 2013 Am J Hum Genet 93:398 PMID:23910461) with segregation in 18 affected members of 4 families. Other variants are reported as ?DM on HGMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.88 | PRKG1 | Rebecca Whittington reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.87 | PRKG1 | Ellen McDonagh Source South West GLH was added to PRKG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.86 | PRKG1 | Ellen McDonagh edited their review of gene: PRKG1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.85 | PRKG1 |
Ellen McDonagh Source London South GLH was added to PRKG1. Rating Changed from Green List (high evidence) to Green List (high evidence) |