Renal ciliopathies

Gene: PKD1

Green List (high evidence)

PKD1 (polycystin 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 16 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Updated MOI from Monoallelic to both Monoallelic and Biallelic, based on review by Julia Baptista.
Created: 20 Jun 2019, 8:32 p.m. | Last Modified: 20 Jun 2019, 8:32 p.m.
Panel Version: 1.110

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Changed MOI to include biallelic variants.
Created: 3 Jun 2019, 2:10 p.m.

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

Publications

Richard Scott (Genomics England Curator)

Green List (high evidence)

Phenotypes
173900

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Autosomal dominant polycystic kidney disease (ADPKD)
OMIM
601313
Clinvar variants
Variants in PKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: PKD1 was added gene: PKD1 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PKD1 were set to 23624871; 20558538 Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD)