Thoracic aortic aneurysm or dissection
Gene: PKD2

PKD2 (polycystin 2, transient receptor potential cation channel)
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 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: 1.114

Created: 13 May 2021, 12:25 p.m.
Last Modified: 13 May 2021, 12:25 p.m.
Panel version: 1.114

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 PKD2 gene. Previous review classified as green due to the intracranyal aneurisms, which are not TAA.
Created: 4 May 2021, 2:07 p.m. | Last Modified: 4 May 2021, 2:07 p.m.

Panel Version: 1.112

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 4 May 2021, 2:07 p.m.
Last Modified: 4 May 2021, 2:07 p.m.
Panel version: 1.112

Rebecca Whittington (South West GLH)

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

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

Panel version: 1.90

Louise Daugherty (Genomics England Curator)

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

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

Panel version: 1.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
South West GLH
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert Review

Phenotypes

Polycystic kidney disease 2, 613095
Connective Tissue Disorders

OMIM

173910

Clinvar variants

Variants in PKD2

Penetrance

Complete

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: pkd2 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 PKD2. Mode of inheritance for gene PKD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 May 2017, Gel status: 2