Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R60 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 |
R-numbers: R61 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 12, autosomal dominant, OMIM:604805, distal hereditary motor neuropathy, MONDO:0018894, Lower limb spasticity, HP:0002061 |
R-numbers: R78 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes distal hereditary motor neuropathy, MONDO:0018894 |