Rare multisystem ciliopathy disorders
Gene: PKD1EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 11 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)
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)
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
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- 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
-
- Renal ciliopathies
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Ductal plate malformation
- Cystic kidney disease
- Thoracic aortic aneurysm or dissection
- Fetal anomalies
- Polycystic liver disease
- Cerebral vascular malformations
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Rebecca Foulger (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 mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: PKD1 were set to
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)PKD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)PKD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene PKD1 were set to Polycystic kidney disease, adult type I, 173900
Added New Source
Ellen McDonagh (Genomics England Curator)PKD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)PKD1 was created by ellenmcdonagh