Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R60 Signed-off version 3.14 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 |
R-numbers: R58 Signed-off version 4.34 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spastic paraplegia 10, autosomal dominant, OMIM:604187 |
R-numbers: R61 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Spastic paraplegia 10, autosomal dominant, 604187 |
R-numbers: R78 Signed-off version 3.24 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hereditary Neuropathies, Spastic paraplegia 10, autosomal dominant |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Myoclonus, intractable, neonatal, 617235, intellectual disability |
Component of the following Super Panels:
Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Myoclonus, intractable, neonatal, OMIM:617235 |