Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypomagnesemia, Seizures, Intellectual disability |
R-numbers: R78 Signed-off version 1.36 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypomagnesemia, Seizures, Intellectual disability |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 2.23 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypomagnesemia, seizures, and mental retardation 2 618314, Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 |