BCM AJ Leukoencephalopathy - EGA European Genome-Phenome Archive

Dac ID	Contact Person	Email	Access Information
EGAC00001000458	Hui Mei	hui [dot] mei [at] bcm [dot] edu	No additional information is available

Dataset ID	Description	Technology	Samples
EGAD00001002005	Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in two individuals from two unrelated Ashkenazi Jewish (AJ) families. Both patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures.		2

Dataset ID

Description

Technology

Samples

EGAD00001002005

Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in two individuals from two unrelated Ashkenazi Jewish (AJ) families. Both patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures.

DAC

This DAC controls 1 dataset:

The European Genome-phenome Archive (EGA) is part of the ELIXIR infrastructure.