Inherited white matter disorders
Gene: EARS2Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. More than 3 unrelated 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 Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). Green gene in the Mitochondrial panel version 1.7.Created: 16 Aug 2016, 9:54 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).
This gene has been removed from the panel.
Phenotypes for EARS2 were set to Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL);General Leukodystrophy & Mitochondrial Leukoencephalopathy;Combined oxidative phosphorylation deficiency 12
Publications for EARS2 were set to 25655951
This gene has been removed from the panel.
EARS2 was added to Inherited white matter disorderspanel. Sources: Expert list
EARS2 was created by [email protected]