Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Familial Paraganglioma and Pheochromocytoma |
R-numbers: R223 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Paragangliomas 4, OMIM:115310, Pheochromocytoma, OMIM:171300, Paraganglioma and gastric stromal sarcoma, OMIM:606864 |
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. |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 |
R-numbers: R354 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 |