This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_Cystic v38.1.0
- OMIM
- 173910
- Clinvar variants
- Variants in PKD2
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Paediatric or syndromic cardiomyopathy
- Cystic kidney disease
- Renal ciliopathies
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Fetal anomalies
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PKD2 was added gene: PKD2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: PKD2 was set to Unknown