Familial Tumours Syndromes of the central & peripheral Nervous system
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
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Details
- Mode of Inheritance
- 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
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- Complete
- Panels with this gene
-
- Von Hippel Lindau syndrome
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Childhood solid tumours
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
- Additional findings health related - CNV analysis children
- Skeletal dysplasia
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Additional findings health related
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Thoracic dystrophies
- Primary ciliary disorders
- Hereditary Erythrocytosis
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
- Familial Meniere Disease
- Inherited phaeochromocytoma and paraganglioma
- Unexplained kidney failure in young people
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Inherited renal cancer
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: VHL were changed from Von Hippel-Lindau Syndrome; von Hippel-Lindau syndrome, 193300; Renal cell carcinoma, somatic, 144700; Pheochromocytoma, 171300; Hemangioblastoma, cerebellar, somatic; Erythrocytosis, familial, 2, 263400 to von Hippel-Lindau syndrome, OMIM:193300; Pheochromocytoma, OMIM:171300; Hemangioblastoma, cerebellar, somatic
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for VHL was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VHL was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VHL was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VHL was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VHL was set to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene VHL was changed to Unknown
Added New Source
Eik Haraldsdottir (Genomics England)VHL was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene VHL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene VHL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)VHL was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)VHL was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Illumina TruGenome Clinical Sequencing Services