| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
R-numbers: R61 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 |
R-numbers: R78 Signed-off version 8.0 | 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 Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 10.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 |