Multiple endocrine tumours
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
5 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previously:
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, 615106Created: 2 Aug 2021, 8:13 a.m. | Last Modified: 2 Aug 2021, 8:13 a.m.
Panel Version: 1.12
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: 3 reviewers plus current diagnostic.Created: 2 Feb 2016, 2:34 p.m.
Details
- Mode of Inheritance
- 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
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Adult solid tumours for rare disease
- Fetal anomalies
- Renal cancer pertinent cancer susceptibility
- Hereditary Erythrocytosis
- Unexplained kidney failure in young people
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Multiple endocrine tumours
- Childhood solid tumours
- Additional findings health related - CNV analysis children
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Inherited renal cancer
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Familial Meniere Disease
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Von Hippel Lindau syndrome
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Endocrine neoplasia
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: VHL were changed from Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300 to Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300; Paragangliomas, MONDO:0000448
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: VHL were changed from 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 to Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300
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
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)VHL was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory