Cholestasis
Gene: PKHD1EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 15 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is Green on the Neonatal cholestasis panel (v1.13). There is enough evidence to support a gene-disease association; however, this gene has been given an Amber rating and a "for-review" tag for consideration of promoting to Green status at the next major review.Created: 16 Nov 2020, 10:53 a.m. | Last Modified: 16 Nov 2020, 10:53 a.m.
Panel Version: 1.72
Zornitza Stark (Australian Genomics)
Periportal fibrosis is a key feature, cholestasis reported.
Sources: Expert listCreated: 9 Aug 2020, 10:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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, OMIM:263200; MONDO:0044327 to Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: PKHD1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to PKHD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pkhd1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (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; MONDO:0044327
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: PKHD1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 to Polycystic kidney disease 4, with or without hepatic disease, 263200
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: PKHD1 was added gene: PKHD1 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKHD1 were set to 30366773; 25771912; 8616994 Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Review for gene: PKHD1 was set to GREEN gene: PKHD1 was marked as current diagnostic