Rare multisystem ciliopathy disorders
Gene: VHL
VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: VHL not included on this panelCreated: 23 Jan 2017, 12:12 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Erythrocytosis, familial, 2, 263400
- Hemangioblastoma, cerebellar, somatic
- Pheochromocytoma, 171300
- Renal cell carcinoma, somatic, 144700
- von Hippel-Lindau syndrome, 193300
- Ciliopathies
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours
- Von Hippel Lindau syndrome
- Fetal anomalies
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Skeletal dysplasia
- Unexplained kidney failure in young people
- 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
- Neuroendocrine cancer pertinent cancer susceptibility
- Thoracic dystrophies
- Primary ciliary disorders
- Hereditary Erythrocytosis
- Childhood solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Familial Meniere Disease
- Inherited phaeochromocytoma and paraganglioma
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Inherited renal cancer
- Cystic kidney disease
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Rare multisystem ciliopathy disorderspanel. Source: Emory Genetics Laboratory
25 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
25 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)VHL was created by ellenmcdonagh