Inherited white matter disorders
Gene: DGUOKComment on list classification: Gene rated green and diagnostic-grade by expert reviewer. More than 3 cases, and different variants, reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial DNA depletion syndrome 3. Green gene in the Mitochondrial panel version 1.7.Created: 15 Aug 2016, 9:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for DGUOK were set to Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 3;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for DGUOK were set to 25655951
This gene has been classified as Green List (High Evidence).
DGUOK was added to Inherited white matter disorderspanel. Sources: Expert list
DGUOK was created by [email protected]