Unexplained kidney failure in young people
Gene: PKD1

PKD1 (polycystin 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 11 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Updating the Mode of Inheritance to include the biallelic cases (PMIDs: * 20558538, 23624871)
Created: 27 Jun 2019, 10:19 a.m. | Last Modified: 27 Jun 2019, 10:19 a.m.

Panel Version: 1.66

Created: 27 Jun 2019, 10:19 a.m.
Last Modified: 27 Jun 2019, 10:19 a.m.
Panel version: 1.66

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 5 Aug 2016, 8:54 a.m.

Created: 5 Aug 2016, 8:54 a.m.

Panel version: 0.246

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
UKGTN
Expert Review
Radboud University Medical Center, Nijmegen

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

Incomplete

Publications

Panels with this gene

History Filter Activity

27 Jun 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PKD1 were changed from Polycystic kidney disease, adult type I, 173900 to Polycystic kidney disease, adult type I, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD)

27 Jun 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PKD1 were set to 19165178; 20558538; 22034641

27 Jun 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Aug 2016, Gel status: 4