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  3. VHL
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Renal Macrocystic 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 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple renal cysts are part of the phenotype.
Sources: Expert list
Created: 5 Jan 2020, 8:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
von Hippel-Lindau syndrome, MIM# 193300

Created: 5 Jan 2020, 8:37 p.m.

Panel version: 0.16

History Filter Activity

5 Jan 2020, 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).

5 Jan 2020, 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).

5 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VHL was added gene: VHL was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, MIM# 193300 Review for gene: VHL was set to GREEN