VHL

von Hippel-Lindau tumor suppressor
OMIM: 608537, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green VHL in Incidentalome


Version 0.314

review Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green VHL in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green VHL 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • von Hippel-Lindau syndrome, MIM# 193300

    Green VHL in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • von Hippel-Lindau syndrome , MIM#193300

    Red VHL in Skeletal dysplasia

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

    review Not set
    Sources
    • Emory Genetics Laboratory

    Green VHL 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
    • von Hippel-Lindau syndrome

    Green VHL in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Erythrocytosis, familial, 2, MIM# 263400

    Amber VHL in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • Expert Review Amber
    • NSW Health Pathology

    Green VHL in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • von Hippel-Lindau syndrome MIM#193300
    Tags
    • cancer
    • treatable

    Green VHL in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • von Hippel-Lindau syndrome , MIM#193300

    Green VHL in Paraganglioma_phaeochromocytoma


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Paraganglioma, MONDO:0000448
    • Pheochromocytoma, MONDO:0008233
    • Von Hippel-Lindau disease, MONDO:0008667
    • von Hippel-Lindau syndrome, MIM#193300
    • Pheochromocytoma, susceptibility to, MIM#171300

    Green VHL in Kidney Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Renal carcinoma, MONDO:0005206
    • Von Hippel-Lindau disease, MONDO:0008667
    • von Hippel-Lindau syndrome, MIM#193300
    • Pheochromocytoma, susceptibility to, MIM#171300