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Additional findings health related - CNV analysis children

Gene: VHL

Green List (high evidence)

VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 24 panels

0 reviews

History Filter Activity

20 Apr 2020, Gel status: 3

Set transcript

Eleanor Williams (Genomics England Curator)

Transcript for gene VHL was changed from None to ENST00000256474.2; NM_000551.3

20 Apr 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: VHL was added gene: VHL was added to Additional findings health related child CNVs. Sources: Expert Review Green,Other 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; Other cancer predisposition; Adult and child