Renal and urinary tract disorders
Gene: PKHD1

PKHD1 (PKHD1, fibrocystin/polyductin)
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 15 panels

2 reviews

Miranda Durkie (Genetics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Panel version: Imported from Cystic kidney disease panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 5 Aug 2016, 9:05 a.m.

Created: 5 Aug 2016, 9:05 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.251

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Autosomal Recessive Polycystic Kidney Disease
Polycystic Kidney Disease, Autosomal Recessive
Polycystic kidney and hepatic disease, 263200

OMIM

606702

Clinvar variants

Variants in PKHD1

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Autosomal Recessive Polycystic Kidney Disease; Polycystic kidney and hepatic disease, 263200; Polycystic Kidney Disease, Autosomal Recessive for gene: PKHD1