Inherited white matter disorders
Gene: DARS2Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. It is a "Both DD and IF" (developmental disorder and incidental disorder) DD gene for Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL), more than 3 cases with 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 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL). Green gene in the Mitochondrial panel version 1.7, Hereditary ataxia panel version 1.7, and ID panel version 1.2.
Created: 15 Aug 2016, 9:29 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
Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
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 DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL);General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for DARS2 were set to 25655951
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
DARS2 was added to Inherited white matter disorderspanel. Sources: Expert list
DARS2 was created by [email protected]