Endocrine neoplasia
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
1 review
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:36 p.m. | Last Modified: 3 Mar 2022, 1:36 p.m.
Panel Version: 1.25
This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.
This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.
This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert ReviewCreated: 28 Jan 2021, 10:27 a.m. | Last Modified: 16 Feb 2021, 10:14 a.m.
Panel Version: 1.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- 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
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- Panels with this gene
-
- Von Hippel Lindau syndrome
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Endocrine neoplasia
- 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
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Inherited renal cancer
- Childhood solid tumours cancer susceptibility
- Familial Meniere Disease
- Skeletal dysplasia
- Inherited phaeochromocytoma and paraganglioma
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Hereditary Erythrocytosis
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: VHL.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to VHL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: vhl has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: VHL was added gene: VHL was added to Endocrine neoplasms. Sources: Expert Review for-review tags were added to gene: VHL. Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VHL were set to 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 Review for gene: VHL was set to AMBER