| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Familial Paraganglioma and Pheochromocytoma |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial Diseases, Gastrointestinal stromal tumor, 606764, Pheochromocytoma, 171300, Paragangliomas 4, 115310, Isolated complex II deficiency, Cowden syndrome 2, 612359, Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Paraganglioma and gastric stromal sarcoma, 606864 |
R-numbers: R223 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Paraganglioma and Gastric Stromal Sarcoma, Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764 |
Green in Inherited predisposition to GISTR-numbers: R363 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Inherited renal cancerR-numbers: R224 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cowden syndrome 2, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas 4, Pheochromocytoma. |
Component of the following Super Panels:
Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Succinate dehydrogenase-deficient leukoencephalopathy, complex II deficiency, Mitochondrial Leukoencephalopathy |