Polycystic liver disease interim

Gene: PKD2

Green List (high evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 12 Mar 2019, 11:26 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 9:38 a.m.
There are >3 unrelated families with variants in this gene and it is a green gene on the Rare multisystem ciliopathy disorders (Version 1.78).
Created: 30 Nov 2018, 2:15 p.m.
Comment when marking as ready: PKD2 is on the Eligibility statement
Created: 26 Nov 2018, 11:43 a.m.

Bill Griffiths (Cambridge University Hospitals)

Green List (high evidence)

Not aware of exceptions to loss of function
Created: 25 Nov 2018, 8:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney disease; liver cysts

Publications

Mode of pathogenicity
Other

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PKD2 were changed from Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) to Polycystic kidney disease 2, OMIM:613095; liver cysts

12 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pkd2 has been classified as Green List (High Evidence).

12 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PKD2 was added gene: PKD2 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKD2 were set to 29321346 Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)