Ehlers Danlos syndromes

Gene: PKD2

No list

PKD2 (polycystin 2, transient receptor potential cation channel)
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 19 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification gene demoted to Grey. 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, 12:17 p.m.

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: PKD2.

25 Jul 2017, Gel status: 0

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

7 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

28 Apr 2017, Gel status: 0

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been removed from the panel.

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PKD2 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Emory Genetics Laboratory

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PKD2 was created by ellenmcdonagh