Cystic kidney disease
Gene: PKD1EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 11 panels
3 reviews
Miranda Durkie (Genetics)
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
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
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- UKGTN
- 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
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Ductal plate malformation
- Thoracic aortic aneurysm or dissection
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Fetal anomalies
- Polycystic liver disease
- Cerebral vascular malformations
- Rare multisystem ciliopathy disorders
History Filter Activity
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)
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: PKD1 were set to 19165178; 20558538; 22034641
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PKD1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for PKD1 were set to 19165178; 20558538; 22034641
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PKD1 was added to Cystic kidney diseasepanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)PKD1 was added to Cystic kidney diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)PKD1 was added to Cystic kidney diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)PKD1 was added to Cystic kidney diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert