Inherited phaeochromocytoma and paraganglioma
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
3 reviews
Katie Snape (South London GMC)
Louise IZATT (GSTT Clinical Genetics Service)
Missense mutations more commonly associated with PCC phenotype.Created: 16 Oct 2015, 2:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Treena Cranston (Oxford)
UKGTN approvedCreated: 30 Sep 2015, 12:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCC; VHL
Publications
- 22429592
- UKGTN
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
-
- Pheochromocytoma, OMIM:171300
- von Hippel-Lindau syndrome, OMIM:193300
- 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
- Skeletal dysplasia
- 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 Pheochromocytoma, OMIM:171300 to Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: VHL were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400 to Pheochromocytoma, OMIM:171300
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
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()VHL was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
Added New Source
GEL ()VHL was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()VHL was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen