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GENATLAS PHENOTYPE |
last update : 30-06-2012 |
Symbol | VWM1 |
Location | 3q27.1 |
Name | leukoencephalopathy with vanishing white matter |
Other name(s) | childhood ataxia with diffuse CNS hypomyelination |
Corresponding gene | EIF2B5 |
Other symbol(s) | CACH, VWM |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | neurology |
eye | |
Type | disease |
Gene product |
Name | eukaryotic translation initiation factor 2B, subunit 5 epsilon |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
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Remark(s) | effects of eIF2B5 mutation on ER homeostasis in oligodendroglial-derived cells (Kantor 2008) |