Leukoencephalopathy with Vanishing White Matter (EIF2B5)
Leukoencephalopathy with vanishing white matter is an autosomal, pan-ethnic neurologic disorder caused by pathogenic variants in the gene EIF2B5. The age at onset can range from early infancy to adulthood. This disorder is characterized by neurological disease, including progressive movement disorder, spasticity, seizures, and cognitive impairment and behavioral changes associated with the development of brain lesions. Minor head trauma can cause rapid neurologic deterioration. The age of death depends on the age of onset, but can range from infancy to adulthood. Several specific variants have been associated with different ages of onset, and therefore the age of onset may be able to be predicted in some patients.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Leukoencephalopathy with Vanishing White Matter||EIF2B5||1-4, 6-10, 13, 14  (*10)||AR||Worldwide||< 1 in 500||65%||0.000700770847932726|