Renal ciliopathies
Gene: PKHD1
PKHD1 (PKHD1, fibrocystin/polyductin)
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
- OMIM
- 606702
- Clinvar variants
- Variants in PKHD1
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Renal ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Neonatal cholestasis
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
History Filter Activity
16 Feb 2026, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PKHD1 was added gene: PKHD1 was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200