Thoracic aortic aneurysm or dissection
Gene: PKD1

PKD1 (polycystin 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 11 panels

4 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Amber to Red based on expert reviews. This gene is also Red on the Thoracic aortic aneurysm and dissection (Version 1.7) panel.
Created: 13 May 2021, 12:25 p.m. | Last Modified: 13 May 2021, 12:25 p.m.

Panel Version: 1.113

Created: 13 May 2021, 12:25 p.m.
Last Modified: 13 May 2021, 12:25 p.m.
Panel version: 1.113

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

Classified Red by Clingen. No Thoracic aortic aneurism (TAA) reported as part of the phenotype associated with PKD1 gene.
Created: 4 May 2021, 2:08 p.m. | Last Modified: 4 May 2021, 2:08 p.m.

Panel Version: 1.112

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 4 May 2021, 2:08 p.m.
Last Modified: 4 May 2021, 2:08 p.m.
Panel version: 1.112

Rebecca Whittington (South West GLH)

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.90

Louise Daugherty (Genomics England Curator)

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

Created: 11 May 2017, 3:01 p.m.

Panel version: 1.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
South West GLH
UKGTN
Radboud University Medical Center, Nijmegen
Expert Review

Phenotypes

Polycystic kidney disease, adult type I,173900
Connective Tissue Disorders

OMIM

601313

Clinvar variants

Variants in PKD1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 May 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pkd1 has been classified as Red List (Low Evidence).

21 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to PKD1. Mode of inheritance for gene PKD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 May 2017, Gel status: 2