Inherited renal cancer
Gene: VHLComment on phenotypes: This gene is also associated with Erythrocytosis, familial, 2 (MIM# 263400); Pheochromocytoma (MIM# 171300); Renal cell carcinoma, somatic (MIM# 144700)Created: 8 Mar 2021, 2 p.m. | Last Modified: 8 Mar 2021, 2 p.m.
Panel Version: 1.11
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:50 p.m. | Last Modified: 31 Jul 2019, 12:50 p.m.
Panel Version: 0.38
Sources: UKGTNCreated: 28 Dec 2018, 9:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.Created: 26 Jul 2017, 12:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal
Phenotypes for gene: VHL were changed from Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater to von Hippel-Lindau syndrome, OMIM:193300; von Hippel-Lindau disease, MONDO:0008667; Renal cell carcinoma (disease), MONDO:0005086
Publications for gene: VHL were set to PMID: 27899189
Gene: vhl has been classified as Green List (High Evidence).
Source Expert List was added to VHL. Rating Changed from No List (delete) to Red List (low evidence)
gene: VHL was added gene: VHL was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VHL were set to PMID: 27899189 Phenotypes for gene: VHL were set to Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater Penetrance for gene: VHL were set to Complete Review for gene: VHL was set to GREEN gene: VHL was marked as current diagnostic