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  2. Renal Macrocystic Disease
  3. PKD2
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Renal Macrocystic Disease

Gene: PKD2

Green List (high 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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Six missense reported (ClinVar), however D511V shown to segregate in one family and to result in LoF (PMID: 11854751)
Created: 7 Feb 2020, 6:02 a.m. | Last Modified: 7 Feb 2020, 6:02 a.m.
Panel Version: 0.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney disease 2 (613095 AD)

Publications

Created: 7 Feb 2020, 6:02 a.m.
Last Modified: 7 Feb 2020, 6:02 a.m.
Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic kidney disease 2, MIM#613095 AD
OMIM
173910
Clinvar variants
Variants in PKD2
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 2, MIM#613095 AD to Polycystic kidney disease 2, MIM#613095 AD

7 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pkd2 has been classified as Green List (High Evidence).

7 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PKD2 were changed from to Polycystic kidney disease 2, MIM#613095 AD

7 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PKD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PKD2 was added gene: PKD2 was added to Renal cystic disease_KidGen. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: PKD2 was set to Unknown