Genomics England

VHL

von Hippel-Lindau tumor suppressor

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Familial Paraganglioma and Pheochromocytoma, VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
Green in Childhood solid tumours Signed-off version 5.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes von Hippel-Lindau syndrome, 193300, Familial Paraganglioma and Pheochromocytoma
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease - Unexplained young onset end-stage renal disease Signed-off version 9.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Endocrine neoplasia R-numbers: R217 Signed-off version 3.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 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
Green in Hereditary Erythrocytosis R-numbers: R405 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Erythrocytosis, familial, 2, OMIM:263400
Green in Inherited phaeochromocytoma and paraganglioma excluding NF1 R-numbers: R223 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Pheochromocytoma, OMIM:171300, von Hippel-Lindau syndrome, OMIM:193300
Green in Inherited renal cancer R-numbers: R224 Signed-off version 1.28	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes von Hippel-Lindau syndrome, OMIM:193300, von Hippel-Lindau disease, MONDO:0008667, Renal cell carcinoma (disease), MONDO:0005086
Green in Von Hippel Lindau syndrome R-numbers: R225 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes