Ductal plate malformation
Gene: PKD2EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
2 reviews
Ivone Leong (Genomics England Curator)
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
-
- NHS GMS
- Expert Review Green
- 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 with or without polycystic liver disease (613095)
- OMIM
- 173910
- Clinvar variants
- Variants in PKD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Thoracic aortic aneurysm or dissection (GMS)
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Ductal plate malformation
- Thoracic aortic aneurysm or dissection
- Cystic kidney disease
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) for gene: PKD2
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PKD2.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Bill Griffiths: Not aware of exceptions to los
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pkd2 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PKD2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PKD2 was added gene: PKD2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)