Panel | Mode of inheritance | Details |
---|---|---|
13 panels | ||
R-numbers: R56 Signed-off version 3.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700 |
R-numbers: R60 Signed-off version 3.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness |
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
R-numbers: R58 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness |
Component of the following Super Panels:
Signed-off version 4.40 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
R-numbers: R31 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
R-numbers: R61 Signed-off version 4.28 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness |
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Severe neonatal cholestasis, Cerebrotendinous xanthomatosis, 213700 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis |
R-numbers: R54 Signed-off version 4.26 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
R-numbers: R78 Signed-off version 3.66 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SNCV described in a minority of patients, Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy, Cerebrotendinous xanthomatosis, 213700 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
Component of the following Super Panels:
Signed-off version 3.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy, Cerebrotendinous xanthomatosis, 213700 |