Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion |
R-numbers: R352 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion |
R-numbers: R438 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion |