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  2. Cerebral vascular malformations
  3. PKD2
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Cerebral vascular malformations

Gene: PKD2

Amber List (moderate evidence)
PKD2 (polycystin 2, transient receptor potential cation channel)
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Intracranial aneurysms is a feature of the condition however variants in PKD2 only accounts for ~15% of all reported ADPKD cases.
Created: 19 Nov 2024, 5:50 a.m. | Last Modified: 19 Nov 2024, 5:50 a.m.
Panel Version: 0.39

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
polycystic kidney disease 2 MONDO:0013131

Publications

Created: 19 Nov 2024, 5:50 a.m.
Last Modified: 19 Nov 2024, 5:50 a.m.
Panel version: 0.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Amber
Phenotypes
  • Polycystic kidney disease 2 613095
OMIM
173910
Clinvar variants
Variants in PKD2
Penetrance
None
Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PKD2 was added gene: PKD2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2 613095