Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Component of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Leukoencephalopathy with vanishing white matter, 603896 |
Green in CataractsR-numbers: R31 Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy with vanishing white matter, 603896 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy with vanishing white matter, 603896 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy with vanishing white matter, 603896 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy with vanishing white matter, 603896, Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
R-numbers: R58 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896 |
Green in White matter disorders - adult onsetR-numbers: R62 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896 |
Component of the following Super Panels:
Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leukoencephalopathy with vanishing white matter, 603896, Childhood Ataxia with Central Nervous System Hypomyelination, General Leukodystrophy & Mitochondrial Leukoencephalopathy, eIF2B related disorder (Vanishing WM Disease or CACH), Ovarioleukodystrophy, 603896 |