Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R56 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 |
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 |
R-numbers: R58 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476, BANDDOS |
Component of the following Super Panels:
Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820, Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 |