Thoracic aortic aneurysm or dissection (GMS)

Gene: PKD1

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)

Limited association with aortopathy in PKD1 carriers but not sufficient for inclusion on the TAAD panel.

Created: 2 Oct 2019, 4:16 p.m. | Last Modified: 2 Oct 2019, 4:16 p.m.

Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Polycystic kidney disease 1 173900

Publications

• 17656674
• 18679710

Red List (low evidence)

173900 polycystic kidney disease (ADPKD); OMIM mentions cardiac features as valvular disease and intracranial aneurysm. No aortopathy phenotype on HGMD.

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

Silverio et al (Nephrology 2015 20:229 PMID:25476912) report on aortic disease in patients with ADPKD. Review of publications where both ADPKD and aortic disease were both present but no mention of genetic associations apart from mentioning that PKD1 and PKD2 cause ADPKD. Patients described in publication also had other marfaniod features. Qiu and Yu (J Cardiovasc Dis & Diag 2013 10.4172 PMID:not found) review the role of PKD1 and PKD2 in cardiovascular systems and describe association with mainly intracranial aneurysms - aortic aneurysm seems less frequent.

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Transferred comment on list classification by Ellen Thomas (Genomics England Curator) from the Cystic kidney disease panel: The primary dominant PKD gene; results need careful curation due to presence of a pseudogene which complicates read mapping and variant calling. April 15, 2016

Created: 11 May 2017, 3:03 p.m.

Comment on phenotypes: clinical synopsis includes Vascular- Intracranial aneurysm

Created: 28 Apr 2017, 1:25 p.m.

Has connective tissue phenotype and subarachnoid haemorrhage

Created: 28 Apr 2017, 1:21 p.m.

Mode of inheritance
Unknown

Phenotypes
Connective Tissue Disorders