Rare multisystem ciliopathy disorders
Gene: PKHD1EnsemblGeneIds (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
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
- OMIM
- 606702
- Clinvar variants
- Variants in PKHD1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Renal ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Ductal plate malformation
- Cystic kidney disease
History Filter Activity
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
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
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)PKHD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)PKHD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)PKHD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene PKHD1 were set to Polycystic kidney and hepatic disease, 263200
Created
Ellen McDonagh (Genomics England Curator)PKHD1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PKHD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list