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 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.35
Latest signed off version: v1.19 (30 Sep 2020)

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 1.1

review Not set
Sources
  • Literature

Green VHL in Additional findings health related


Version 0.110

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 1.0

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 1.1

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 1.9

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
  • von Hippel-Lindau syndrome, 193300
  • Renal cell carcinoma, somatic, 144700
  • Pheochromocytoma, 171300
  • Hemangioblastoma, cerebellar, somatic
  • Erythrocytosis, familial, 2, 263400

Green VHL in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

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 1.12

review Not set
Sources
  • Emory Genetics Laboratory

Green VHL in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.17
Latest signed off version: v2.5 (4 Mar 2020)

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


Version 1.21
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 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
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 Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.6

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
  • von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400

Green VHL in Inherited phaeochromocytoma and paraganglioma excluding NF1


Version 1.15
Latest signed off version: v1.4 (11 Nov 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400

Amber VHL in Endocrine neoplasms


Version 1.22
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • 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
Tags
  • for-review

Green VHL in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.26
Latest signed off version: v2.2 (19 Feb 2020)

Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 1.92

    Component of the following Super Panels:

  • Renal superpanel - broad
  • 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 1.14

    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 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.9
    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 1.29

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Red VHL in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.97
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green VHL in Unexplained paediatric onset end-stage renal disease


    Version 1.18
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • von Hippel-Lindau syndrome 193300

    Red VHL in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.142

    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 Severe Paediatric Disorders


    Version 1.76

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Erythrocytosis, familial, 2, 263400
    • von Hippel-Lindau syndrome, 193300
    • Pheochromocytoma, 171300

    Green VHL in Additional findings health related - children


    Version 1.0

    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 1.0

    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