Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in Adult onset movement disorderR-numbers: R56 Signed-off version 1.121 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Alexander disease, OMIM:203450 |
Component of the following Super Panels:
Signed-off version 2.23 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Autosomal Dominant Ataxia, Alexander disease |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ALEXANDER DISEASE 203450 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ALEXANDER DISEASE |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Alexander disease, 203450, seizures |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Autosomal Dominant Ataxia, Alexander disease, Alexander disease, 203450 |
Green in HydrocephalusR-numbers: R86 Signed-off version 2.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Alexander disease 203450 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Alexander disease, 203450, ALEXANDER DISEASE |
R-numbers: R58 Signed-off version 2.178 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Autosomal Dominant Ataxia, Alexander disease, OMIM:203450 |
Green in White matter disorders - adult onsetR-numbers: R62 Signed-off version 1.25 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Alexander disease, 203450 |
Component of the following Super Panels:
Signed-off version 1.12 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy |