Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R58 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121 |
Component of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, |
R-numbers: R54 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,, Cerebellar ataxia, deafness and narcolepsy, 604121, Hereditary sensory neuropathy type IE, 614116 |
R-numbers: R78 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Dementia, Deafness, and Sensory Neuropathy, Neuropathy, hereditary sensory, type IE, 614116 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes hearing loss, Dementia, Deafness, and Sensory Neuropathy, Neuropathy, hereditary sensory, type IE, 614116, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 |
R-numbers: R66 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ADCADN |