Neonatal cholestasis
Gene: PKHD1EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 15 panels
4 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New review from Zornitza Stark (Australian Genomics) added to PKHD1 on Cholestasis panel with the following review:
"Periportal fibrosis is a key feature, cholestasis reported. Sources: Expert list
Zornitza Stark (Australian Genomics), 9 Aug 2020"
PMID: 25771912 shows another case of isolated hepatic presentation. After discussion with the Genomics England Clinical Team, it was decided that there is now enough evidence for this gene to be Green on this panel.Created: 16 Nov 2020, 10:42 a.m. | Last Modified: 16 Nov 2020, 10:42 a.m.
Panel Version: 1.13
Helen Brittain (Genomics England Curator)
Comment when marking as ready: I would support an amber rating. This is based upon the evidence that the vast majority of infantile presentations, the age that this panel is targeted at, involve renal disease; enlarged or polycystic kidneys. I would expect these cases to present primarily via the cystic renal disease route. There is evidence within PMID 16523049 of an isolated hepatic presentation in some cases considered to have a likely pathogenic variant, namely; 1 year old with hepatomegaly and three people with cholangitis, however they were aged 25 / 37 / 40 years at presentation.
Amber and watchlist considered appropriate, whilst further evidence is gathered of isolated hepatic presentation in young infants.Created: 27 Jul 2018, 11:32 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene has a high level of evidence for implication in polycystic kidney disease, which can eventually develop into cholestasis (PMID: 23593929); however, they are unlikely to present with cholestasis without renal failure or polycystic kidneys in which case other gene panels would be applied - this gene is Green on the Unexplained kidney failure in young people Version 1.13, Rare multisystem ciliopathy disorders Version 1.45, Cystic kidney disease Version 1.26. Therefore it is not clear that this gene should be Green on this panel.Created: 25 Jul 2018, 1:08 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive polycystic kidney disease; cholestasis; portal hypertension; congenital hepatic fibrosis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
- OMIM
- 606702
- Clinvar variants
- Variants in PKHD1
- Penetrance
- None
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Removed Tag
Ivone Leong (Genomics England Curator)Tag watchlist was removed from gene: PKHD1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pkhd1 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PKHD1 were set to
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Helen Brittain (Genomics England Curator)Gene: pkhd1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4, with or without hepatic disease 263200
Set mode of inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for gene: PKHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: pkhd1 has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PKHD1. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PKHD1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PKHD1 was created by Ellen McDonagh