Rare multisystem ciliopathy disorders
Gene: PKD1Comment 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
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
Phenotypes
173900
Publications
Variants in this GENE are reported as part of current diagnostic practice
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)
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
Publications for gene: PKD1 were set to
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PKD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
PKD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene PKD1 were set to Polycystic kidney disease, adult type I, 173900
PKD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
PKD1 was created by ellenmcdonagh