Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R61 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 |
R-numbers: R78 Signed-off version 4.11 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484, Spastic paraplegia 57, autosomal recessive, OMIM:615658 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 |