PKHD1

PKHD1, fibrocystin/polyductin
OMIM: 606702, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green PKHD1 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

    Green PKHD1 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.62

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

    Green PKHD1 in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
    • Nephrocalcinosis, MONDO:0001567, PKHD1-related

    Green PKHD1 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.26

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

    Green PKHD1 in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 0.79

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_Cystic v38.1.0
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

    Red PKHD1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services

    Green PKHD1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Polycystic kidney and hepatic disease, 263200 (3)

    Green PKHD1 in Polycystic liver disease


    Level 2: Gastroenterological disorders
    Version 1.8

    Component of the following Super Panels:

  • Liverome Superpanel
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 4 with or without hepatic disease (263200)

    Green PKHD1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Polycystic kidney and hepatic disease

    Green PKHD1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

    Green PKHD1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease MIM#263200

    Red PKHD1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

    Green PKHD1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Polycystic kidney and hepatic disease, 263200 (3)