PanelApp (stage)
  1. Genes and Genomic Entities
  2. PKD1

PKD1

polycystin 1, transient receptor potential channel interacting
OMIM: 601313, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PKD1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic kidney disease 1, MIM# 173900

Green PKD1 in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 0.69

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_Cystic v38.1.0
    Phenotypes
    • Polycystic kidney disease 1, MIM# 173900

    Amber PKD1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Genomics England PanelApp
    • Expert Review Amber
    Phenotypes
    • Polycystic kidney disease, adult type I 173900

    Green PKD1 in Polycystic liver disease


    Level 2: Gastroenterological disorders
    Version 1.8

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)

    Green PKD1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Polycystic kidney disease

    Green PKD1 in Fetal anomalies


    Version 1.255

    		review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Polycystic kidney disease 1, OMIM #173900

    Amber PKD1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Polycystic kidney disease 1, MIM# 173900
    Tags
    • for review
    • treatable
    • renal