1. Panels
  2. Paraganglioma_phaeochromocytoma
  3. VHL
STRs in panel
Prev Next
Regions in panel
Prev Next

Paraganglioma_phaeochromocytoma

Gene: VHL

Green List (high evidence)
VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 12 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.
Sources: Expert list, Expert Review
Created: 18 Sep 2024, 9:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Von Hippel-Lindau disease, MONDO:0008667; von Hippel-Lindau syndrome, MIM#193300; Pheochromocytoma, susceptibility to, MIM#171300

Created: 18 Sep 2024, 9:06 p.m.

Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Paraganglioma, MONDO:0000448
  • Pheochromocytoma, MONDO:0008233
  • Von Hippel-Lindau disease, MONDO:0008667
  • von Hippel-Lindau syndrome, MIM#193300
  • Pheochromocytoma, susceptibility to, MIM#171300
OMIM
608537
Clinvar variants
Variants in VHL
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vhl has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: vhl has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: VHL was added gene: VHL was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VHL were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Von Hippel-Lindau disease, MONDO:0008667; von Hippel-Lindau syndrome, MIM#193300; Pheochromocytoma, susceptibility to, MIM#171300 Review for gene: VHL was set to GREEN