PKHD1

PKHD1, fibrocystin/polyductin
OMIM: 606702, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green PKHD1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.16

review 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 263200

Red PKHD1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

Amber PKHD1 in Cholestasis


Version 1.74
Signed off v.1.21 on 20 Aug 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200
  • MONDO:0044327
Tags
  • for-review

Green PKHD1 in Ductal plate malformation


Version 1.11

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • 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 (263200)

Green PKHD1 in Polycystic liver disease interim


Version 1.6
Signed off v.1.4 on 4 Mar 2020

review 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 (263200)

Green PKHD1 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.19
Signed off v.2.2 on 19 Feb 2020

Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Autosomal Recessive Polycystic Kidney Disease
    • Polycystic Kidney Disease, Autosomal Recessive
    • Polycystic kidney and hepatic disease, 263200

    Green PKHD1 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.92

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Polycystic kidney and hepatic disease, 263200

    Red PKHD1 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.26

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Red PKHD1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.32
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green PKHD1 in Unexplained paediatric onset end-stage renal disease


    Version 1.11
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Polycystic Kidney Disease, Autosomal Recessive
    • Polycystic kidney and hepatic disease, 263200
    • Autosomal Recessive Polycystic Kidney Disease

    Green PKHD1 in Fetal anomalies


    Version 1.115
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE

    Green PKHD1 in DDG2P


    Version 2.12
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200

    Amber PKHD1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.568
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Polycystic kidney and hepatic disease, 263200

    Green PKHD1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.130

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Polycystic kidney and hepatic disease, 263200

    Green PKHD1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert review green
    • Literature
    Phenotypes
    • Polycystic kidney disease, autosomal recessive
    • Congenital or cystic renal disease
    • Nephropathy of unknown origin
    • MIM 263200

    Green PKHD1 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.31
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Polycystic kidney and hepatic disease, 263200

    Red PKHD1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PKHD1 in Severe Paediatric Disorders


    Version 1.20

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease, 263200