Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R60 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 |
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 |
R-numbers: R61 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700 |
R-numbers: R54 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autosomal recessive spastic paraplegia 15, 270700, Autosomal recessive spastic paraplegia 15, 270700 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 (SPG15) |
Green in Retinal disordersR-numbers: R32 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 15, autosomal recessive OMIM:270700 |
Component of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 15, autosomal recessive, OMIM:270700 |