Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Familial Pheochromocytoma, adrenal |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.20 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Pheochromocytoma, susceptibility to}, OMIM:171300 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.80 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Polydactyly-macrocephaly syndrome, OMIM:620712 |
R-numbers: R223 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Pheochromocytoma, susceptibility to}, OMIM:171300, Hereditary Paraganglioma-Pheochromocytoma Syndrome |
Green in Neurological segmental overgrowthComponent of the following Super Panels:
Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Polydactyly-macrocephaly syndrome, OMIM:620712 |