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Unexplained paediatric onset end-stage renal disease

Gene: VHL

Green List (high evidence)

VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels

4 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.

Miranda Durkie (Genetics)

Green List (high evidence)

Phenotypes
von Hippel Lindau

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reported in von Hippel-Lindau syndrome 193300
Created: 5 Aug 2016, 12:58 p.m.
Comment on phenotypes: Also associated with Erythrocytosis, familial, 2 263400, Hemangioblastoma, cerebellar, somatic, Pheochromocytoma 171300 and Renal cell carcinoma, somatic 144700
Created: 5 Aug 2016, 12:57 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Important differential for renal cysts.
Created: 10 May 2016, 1:10 p.m.

History Filter Activity

9 Apr 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: VHL was added gene: VHL was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome 193300