Multiple endocrine tumours
Gene: VHLComment on phenotypes: Previously:
Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106Created: 2 Aug 2021, 8:13 a.m. | Last Modified: 2 Aug 2021, 8:13 a.m.
Panel Version: 1.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: 3 reviewers plus current diagnostic.Created: 2 Feb 2016, 2:34 p.m.
Phenotypes for gene: VHL were changed from Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300 to Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300; Paragangliomas, MONDO:0000448
Phenotypes for gene: VHL were changed from Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106 to Endocrine Cancer; Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300
This gene has been classified as Green List (High Evidence).
Mode of inheritance for VHL was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
VHL was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory