VHL:Ensemblv115

von Hippel-Lindau tumor suppressor
OMIM: 608537, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green VHL in Incidentalome


Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome , MIM#193300

Green VHL in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green VHL in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome, MIM# 193300

Green VHL in Additional findings_Adult


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Melbourne Genomics Health Alliance
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome , MIM#193300

Green VHL in Renal cancer


Level 2: Cancer susceptibility
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • SA Pathology
  • Expert Review Green
Phenotypes
  • Renal hemangioblastoma
  • Renal cell carcinoma

Green VHL in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Erythrocytosis, familial, 2, MIM# 263400

Green VHL in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome MIM#193300
Tags
  • cancer
  • treatable

Green VHL in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Melbourne Genomics Health Alliance
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome , MIM#193300