Panel | Mode of inheritance | Details |
---|---|---|
12 panels | ||
Green in Adult onset movement disorderR-numbers: R56 Signed-off version 1.121 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700 |
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
Green in CataractsR-numbers: R31 Signed-off version 2.76 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
Green in CholestasisR-numbers: R171 Signed-off version 1.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Severe neonatal cholestasis, Cerebrotendinous xanthomatosis, 213700 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
R-numbers: R78 Signed-off version 1.36 | 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 |
R-numbers: R60 Signed-off version 1.27 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness |
R-numbers: R61 Signed-off version 2.18 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
R-numbers: R58 Signed-off version 2.178 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness |
Green in White matter disorders - adult onsetR-numbers: R62 Signed-off version 1.25 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebrotendinous xanthomatosis, 213700 |
Component of the following Super Panels:
Signed-off version 1.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy, Cerebrotendinous xanthomatosis, 213700 |