Unexplained kidney failure in young people
Gene: PKD2EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 5 Aug 2016, 8:59 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Expert
- Eligibility statement prior genetic testing
- Phenotypes
-
- Polycystic kidney disease 2, 613095
- OMIM
- 173910
- Clinvar variants
- Variants in PKD2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Cerebral vascular malformations
- Ductal plate malformation
- Cystic kidney disease
- Thoracic aortic aneurysm or dissection
- Paediatric or syndromic cardiomyopathy
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for PKD2 were set to 18635443; 21719175; 22114106
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PKD2 were set to Polycystic kidney disease 2, 613095
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PKD2 was changed to Unknown
Created
Sarah Leigh (Genomics England Curator)PKD2 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PKD2 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert,Eligibility statement prior genetic testing,Expert Review Green