Thoracic aortic aneurysm or dissection (GMS)

Gene: PKD2

Red List (low evidence)

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

Red List (low evidence)

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

• 10615132
• 12874107

Red List (low evidence)

613095 Polycystic kidney disease 2

Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Comment on mode of inheritance: MOI from Illumina truegenome

Created: 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 aneurysm

Created: 28 Apr 2017, 1:28 p.m.

Mode of inheritance
Unknown

Phenotypes
Connective Tissue Disorders