Rare multisystem ciliopathy disorders
Gene: PKD2EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Polycystic kidney disease 2, 613095
- OMIM
- 173910
- Clinvar variants
- Variants in PKD2
- Penetrance
- Complete
- 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
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)PKD2 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)PKD2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)PKD2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene PKD2 were set to Polycystic kidney disease 2, 613095
Created
Ellen McDonagh (Genomics England Curator)PKD2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PKD2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list