Primary ciliary disorders
Gene: PKD2
PKD2 (polycystin 2, transient receptor potential cation channel)
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- 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
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PKD2 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory