Thoracic aortic aneurysm or dissection
Gene: PKD2Comment 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
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
613095 Polycystic kidney disease 2Created: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on mode of inheritance: MOI from Illumina truegenomeCreated: 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 aneurysmCreated: 28 Apr 2017, 1:28 p.m.
Mode of inheritance
Unknown
Phenotypes
Connective Tissue Disorders
Gene: pkd2 has been classified as Red List (Low Evidence).
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
PKD2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKD2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services
Phenotypes for PKD2 were set to Polycystic kidney disease 2, 613095; Connective Tissue Disorders
Phenotypes for PKD2 were set to Polycystic kidney disease 2, 613095
Phenotypes for PKD2 were set to Connective Tissue Disorders;Polycystic kidney disease 2, 613095
PKD2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Expert Review
PKD2 was created by LouiseD