Groopman et al 2019 - Genes with diagnostic variants
Gene: PKD1

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: PKD1; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Nephropathy of unknown origin; Genetic diagnosis: Polycystic kidney disease 1; OMIM phenotype MIM no.:173900; Number of cases: 75
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert review green
Literature

Phenotypes

Congenital or cystic renal disease
Nephropathy of unknown origin
Polycystic kidney disease 1
MIM 173900

OMIM

601313

Clinvar variants

Variants in PKD1

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to PKD1. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PKD1 was added gene: PKD1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKD1 were set to Congenital or cystic renal disease; Nephropathy of unknown origin; Polycystic kidney disease 1; MIM 173900

Groopman et al 2019 - Genes with diagnostic variants Gene: PKD1