Thoracic aortic aneurysm or dissection

Gene: PKD2

Amber List (moderate evidence)

PKD2 (polycystin 2, transient receptor potential cation channel)
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 20 panels

2 reviews

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

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

History Filter Activity

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

Upload gene information

Louise Daugherty (Genomics England Curator)

PKD2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Radboud University Medical Center, Nijmegen

11 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

11 May 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

PKD2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services

11 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PKD2 were set to Polycystic kidney disease 2, 613095; Connective Tissue Disorders

11 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PKD2 were set to Polycystic kidney disease 2, 613095

28 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PKD2 were set to Connective Tissue Disorders;Polycystic kidney disease 2, 613095

28 Apr 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PKD2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Expert Review

28 Apr 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PKD2 was created by LouiseD