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  2. Renal and urinary tract disorders
  3. PKD1
STRs in panel
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Renal and urinary tract disorders

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 11 panels

4 reviews

Miranda Durkie (Genetics)

Green List (high evidence)

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

Phenotypes
Polycystic kidney disease

Publications

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Cystic kidney disease panel version 0

Ellen McDonagh (Genomics England Curator)

PMID: 28378423 - single-molecule long-read sequencing approach reported to tackle the pseudo-gene issue.
Created: 14 Aug 2017, 2:57 p.m.

Phenotypes
autosomal-dominant polycystic kidney disease

Publications

Created: 14 Aug 2017, 2:57 p.m.

Panel version: Imported from Cystic kidney disease panel version 1.3

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: Imported from End-stage renal disease - childhood onset panel version 0.246

Ellen Thomas (Genomics England Curator)

Comment on list classification: The primary dominant PKD gene; results need careful curation due to presence of a pseudogene which complicates read mapping and variant calling.
Created: 15 Apr 2016, 11:01 a.m.
Created: 15 Apr 2016, 11:01 a.m.

Panel version: Imported from Cystic kidney disease panel version 0.3

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
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

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

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen Thomas: Comment on list classification

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Polycystic kidney disease, adult type I, 173900 for gene: PKD1

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PKD1 was added gene: PKD1 was added to Renal and urinary tract disorders. Sources: 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 19165178; 20558538; 22034641 Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I, 173900