1. Genes and Genomic Entities
  2. VHL

VHL

von Hippel-Lindau tumor suppressor
OMIM: 608537, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels
Green VHL in Hereditary Erythrocytosis


Level 2: Haematology
Version 2.17
Latest signed off version: v2.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Erythrocytosis, familial, 2, OMIM:263400
Red VHL in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.4

review Not set
Sources
  • Literature
Green VHL in Additional findings health related


Version 0.116

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Other cancer predisposition
  • Von Hippel Lindau Syndrome
  • Adult and child
Green VHL in Neuroendocrine cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuroendocrine cancer
Green VHL in Renal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal cancer
Green VHL in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • von Hippel-Lindau syndrome, OMIM:193300
  • Pheochromocytoma, OMIM:171300
  • Hemangioblastoma, cerebellar, somatic
Green VHL in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Red VHL in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Green VHL in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Expert List
Phenotypes
  • von Hippel-Lindau syndrome, 193300
  • Familial Paraganglioma and Pheochromocytoma
Green VHL in Inherited renal cancer


Level 2: Inherited cancer
Version 1.28
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
  • UKGTN
Phenotypes
  • von Hippel-Lindau syndrome, OMIM:193300
  • von Hippel-Lindau disease, MONDO:0008667
  • Renal cell carcinoma (disease), MONDO:0005086
Green VHL in Multiple endocrine tumours

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
  • Pheochromocytoma, OMIM:171300
  • von Hippel-Lindau syndrome, OMIM:193300
  • Paragangliomas, MONDO:0000448
Green VHL in Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pheochromocytoma, OMIM:171300
  • von Hippel-Lindau syndrome, OMIM:193300
Green VHL in Inherited phaeochromocytoma and paraganglioma excluding NF1


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pheochromocytoma, OMIM:171300
  • von Hippel-Lindau syndrome, OMIM:193300
Green VHL in Endocrine neoplasia


Level 2: Endocrinology
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Endocrine Cancer
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Green VHL in Cystic kidney disease


Level 2: Renal
Version 8.5
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert
    Green VHL in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert
    Phenotypes
    • von Hippel-Lindau syndrome 193300
    Green VHL in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.30

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Familial Paraganglioma and Pheochromocytoma
    • VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
    Green VHL in Adult solid tumours cancer susceptibility


    Level 2: Cancer susceptibility
    Version 2.35
    Latest signed off version: v2.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Familial Paraganglioma and Pheochromocytoma
    • VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
    Red VHL in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red VHL in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Red VHL in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • von Hippel-Lindau syndrome, OMIM:193300
    Red VHL in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Erythrocytosis, familial, 2, 263400
    • Hemangioblastoma, cerebellar, somatic
    • Pheochromocytoma, 171300
    • Renal cell carcinoma, somatic, 144700
    • von Hippel-Lindau syndrome, 193300
    • Ciliopathies
    Green VHL in Additional findings health related - children


    Version 1.1

    Component of the following Super Panels:

  • Additional findings health related - adults

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • Other cancer predisposition
    • Von Hippel Lindau Syndrome
    • Adult and child
    Green VHL in Additional findings health related - CNV analysis children


    Version 1.1

    Component of the following Super Panels:

  • Additional findings health related - CNV analysis adults

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • Von Hippel Lindau Syndrome
    • Other cancer predisposition
    • Adult and child
    Green VHL in Von Hippel Lindau syndrome


    Level 2: Inherited cancer
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • von Hippel-Lindau syndrome, OMIM:193300
    • von Hippel-Lindau disease, MONDO:0008667