Renal and urinary tract disorders
Gene: PKD2EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on publications: Added publications suggested by Miranda Durkie on 25th January 2019 on the Cystic kidney disease panel (v.1.34)Created: 30 Jan 2019, 1:23 p.m.
Miranda Durkie (Genetics)
Approximately 15% of cases of ADPKD due to mutations in this gene. Majority of mutations are truncating. PKD2 mutation is associated with significantly delayed onset of ESRD relative to PKD1 truncating mutations therefore has important therapeutic and prognostic implicationsCreated: 25 Jan 2019, 4:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
- Phenotypes
-
- Autosomal Dominant Polycystic Kidney Disease
- Polycystic kidney disease 2, 613095
- Polycystic Kidney Disease, Autosomal Dominant
- OMIM
- 173910
- Clinvar variants
- Variants in PKD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Thoracic aortic aneurysm or dissection (GMS)
- Skeletal dysplasia
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood onset dystonia, chorea or related movement disorder
- 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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Comment when marking as ready:
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: PKD2 were set to 18635443; 21719175; 22114106
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Autosomal Dominant Polycystic Kidney Disease; Polycystic kidney disease 2, 613095; Polycystic Kidney Disease, Autosomal Dominant for gene: PKD2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PKD2 was added gene: PKD2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKD2 were set to 18635443; 21719175; 22114106 Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2, 613095