Inherited renal cancer
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
6 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Erythrocytosis, familial, 2 (MIM# 263400); Pheochromocytoma (MIM# 171300); Renal cell carcinoma, somatic (MIM# 144700)Created: 8 Mar 2021, 2 p.m. | Last Modified: 8 Mar 2021, 2 p.m.
Panel Version: 1.11
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:50 p.m. | Last Modified: 31 Jul 2019, 12:50 p.m.
Panel Version: 0.38
Lara Hawkes (Genomics England)
Rachel Robinson (Leeds Genetics Laboratory)
Sources: UKGTNCreated: 28 Dec 2018, 9:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater
Publications
- PMID: 27899189
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.Created: 26 Jul 2017, 12:15 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert List
- Phenotypes
-
- von Hippel-Lindau syndrome, OMIM:193300
- von Hippel-Lindau disease, MONDO:0008667
- Renal cell carcinoma (disease), MONDO:0005086
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- Complete
- Publications
- 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
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Additional findings health related
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Thoracic dystrophies
- Skeletal dysplasia
- 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
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VHL were changed from Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater to von Hippel-Lindau syndrome, OMIM:193300; von Hippel-Lindau disease, MONDO:0008667; Renal cell carcinoma (disease), MONDO:0005086
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: VHL were set to PMID: 27899189
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: vhl has been classified as Green List (High Evidence).
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to VHL. Rating Changed from No List (delete) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Rachel Robinson (Leeds Genetics Laboratory)gene: VHL was added gene: VHL was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VHL were set to PMID: 27899189 Phenotypes for gene: VHL were set to Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater Penetrance for gene: VHL were set to Complete Review for gene: VHL was set to GREEN gene: VHL was marked as current diagnostic