Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 42 616795 |
R-numbers: R57 Signed-off version 1.137 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087, Spinocerebellar ataxia 42 616795 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 42 616795 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 42, 616795, early-onset SCA42 with neurodevelopmental deficits, 618087 |
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 Spinocerebellar ataxia 42 616795, Cerebellar atrophy, epilepsy, intellectual disability |
R-numbers: R58 Signed-off version 2.178 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 42, OMIM:616795 |