Thoracic aortic aneurysm or dissection (GMS)
Gene: PKD2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Possible association with aortopathy in mouse models but not sufficient for inclusion on the TAAD panel.Created: 2 Oct 2019, 4:19 p.m. | Last Modified: 2 Oct 2019, 4:19 p.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 2 613095
Publications
613095 Polycystic kidney disease 2Created: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on mode of inheritance: MOI from Illumina truegenomeCreated: 11 May 2017, 3:26 p.m.
Has connective tissue phenotype and subarachnoid haemorrhage. From Ehlers-Danlos panel review, Comment from Richard Scott. PKD2 has connective tissue phenotype and subarachnoid haemorrhage, but should go on the Familial Thoracic Aortic Aneurysm Disease panel because of the aneurysms, this means that PKD1 and PKD2 would be on our wider connective tissue panel if we merge panels later.Created: 11 May 2017, 2:53 p.m.
Comment on phenotypes: Clinical synopsis includes Vascular- Intracranial aneurysmCreated: 28 Apr 2017, 1:28 p.m.
Mode of inheritance
Unknown
Phenotypes
Connective Tissue Disorders
gene: PKD2 was added gene: PKD2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Connective Tissue Disorders; Polycystic kidney disease 2, 613095