Polycystic liver disease
Gene: PKD2EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
2 reviews
Ivone Leong (Genomics England Curator)
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 givenCreated: 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 statementCreated: 26 Nov 2018, 11:43 a.m.
Bill Griffiths (Cambridge University Hospitals)
Not aware of exceptions to loss of functionCreated: 25 Nov 2018, 8:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease; liver cysts
Publications
- PMID: 29321346
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- NHS GMS
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Polycystic kidney disease 2, OMIM:613095
- liver cysts
- OMIM
- 173910
- Clinvar variants
- Variants in PKD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Cerebral vascular malformations
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Ductal plate malformation
- Thoracic aortic aneurysm or dissection
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
History Filter Activity
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pkd2 has been classified as Green List (High Evidence).
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)