Polycystic liver disease interim

Gene: PKHD1

Green List (high evidence)

PKHD1 (PKHD1, fibrocystin/polyductin)
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 18 panels

2 reviews

Bill Griffiths (Cambridge University Hospitals)

Green List (high evidence)

Not aware of exceptions to loss of function
Created: 25 Nov 2018, 9:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney; liver cysts; congenital hepatic fibrosis; Caroli's disease; biliary dysplasia

Publications

Mode of pathogenicity
Other

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 12 Mar 2019, 11:27 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKHD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 9:38 a.m.
Comment when marking as ready: PKHD1 is on the Eligibility statement and received a green review from Bill Griffiths (Cambridge University Hospitals).
Created: 26 Nov 2018, 12:02 p.m.
Comment on mode of inheritance: Changed from Biallelic to Both monoallelic and biallelic as a paper (PMID:30211211) provided by Bill Griffiths (Cambridge University Hospitals) reported 2 probands who have Ductal plate malformation with different heterozygous variants (1 a small deletion and another a missense variant) in the PKHD1 gene, suggesting an dominant mode of inheritance. Previous publications have reported recessive variants.
Created: 26 Nov 2018, 12:01 p.m.
Green gene on the Rare multisystem ciliopathy disorders (Version 1.78). It is a confirmed causative gene for Polycystic kidney disease 4 with or without hepatic disease on Gene2Phenotype. There are 4 probands with LOF mutations and have liver cysts and there are murine models that support this.
Created: 12 Nov 2018, 1:55 p.m.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
  • Caroli disease, MONDO:0010913
OMIM
606702
Clinvar variants
Variants in PKHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

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; Caroli disease, MONDO:0010913

12 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pkhd1 has been classified as Green List (High Evidence).

12 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PKHD1 was added gene: PKHD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PKHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358 Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)