VHL

von Hippel-Lindau tumor suppressor
OMIM: 608537, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green VHL in Hereditary Erythrocytosis


Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Familial Erythrocytosis 263400
  • Polycythaemia
  • erythrocytosis
  • pulmonary arterial hypertension
  • thrombosis
  • vertebral haemangioma
  • varicose veins

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 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 1.7

review Not set
Sources
  • Emory Genetics Laboratory

Green VHL in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.25

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

Green VHL in Tumour predisposition - adult onset


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
  • Adult solid tumours for rare disease (Version 1.21)
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
  • Hemangioblastoma, cerebellar, somatic
  • Von Hippel-Lindau Syndrome
  • Erythrocytosis, familial, 2, 263400
  • Renal cell carcinoma, somatic, 144700
  • von Hippel-Lindau syndrome, 193300
  • Pheochromocytoma, 171300

Green VHL in Inherited renal cancer


Version 0.37

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
  • UKGTN
Phenotypes
  • Renal hemangioblastoma
  • Renal cell carcinoma
  • Multiple renal cysts
  • Pheochromocytoma
  • Sporadic cerebellar hemangioblastoma
  • Hypernephroma
  • Pancreatic cancer
  • Paraganglioma
  • Adenocarcinoma of ampulla of Vater

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 1.5

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 0.6

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

Green VHL in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.48

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 1.73

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • 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 1.3

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

Green VHL in Adult solid tumours cancer susceptibility

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

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

Red VHL in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.19

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Red VHL in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.192

review Not set
Sources
  • Emory Genetics Laboratory

Green VHL in Renal and urinary tract disorders


Version 1.18

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

Green VHL in Unexplained paediatric onset end-stage renal disease


Version 0.19

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 1.119

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