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Table 1 Primary findings

From: A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants

Gene

Nomenclature

Consequence

Genotype

Classification

EIF2B3

c.687T > G, p.(Ile229Met)

Missense variant

Homozygous

Likely pathogenic

PRKN

c.(412 + 1_413-1)_(534 + 1_535-1)del

Deletion

Homozygous

pathogenic

  1. This table represents the primary findings that are seen in the whole exome test, which consists of a sequence analysis of all protein-coding genes in the genome for the proband, coupled with whole exome deletion/duplication analysis.
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BMC Neurology

ISSN: 1471-2377

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