PanelApp (test)
  1. Genes and Genomic Entities
  2. PKD2

PKD2

polycystin 2, transient receptor potential cation channel
OMIM: 173910, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PKD2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic kidney disease 2, MIM# 613095

Green PKD2 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 2, MIM#613095 AD

    Red PKD2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

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

    Amber PKD2 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genomics England PanelApp
    • Expert Review Amber
    Phenotypes
    • Polycystic kidney disease 2 613095

    Green PKD2 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 2 with or without polycystic liver disease (613095)

    Green PKD2 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 PKD2 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 2, OMIM #613095

    Amber PKD2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Polycystic kidney disease 2, MIM# 613095
    Tags
    • for review
    • treatable
    • renal