| Panel | Mode of inheritance | Details |
|---|---|---|
8 panels | ||
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 Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Endocrine neoplasmsR-numbers: R217 Signed-off version 2.1 | 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 ErythrocytosisR-numbers: R405 Signed-off version 1.19 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Familial Erythrocytosis 263400, Polycythaemia, erythrocytosis, pulmonary arterial hypertension, thrombosis, vertebral haemangioma, varicose veins |
R-numbers: R223 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Pheochromocytoma, OMIM:171300, von Hippel-Lindau syndrome, OMIM:193300 |
Green in Inherited renal cancerR-numbers: R224 Signed-off version 1.2 | 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 |
R-numbers: R359 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes von Hippel-Lindau syndrome, 193300, Familial Paraganglioma and Pheochromocytoma |
R-numbers: R257 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes von Hippel-Lindau syndrome 193300 |