Inherited white matter disorders
Gene: AARS2Comment on list classification: A second case report in a Japanese patient has now been published (PMID: 27251004) to give a total of 7 patients, and different variants.Created: 26 Aug 2016, 7:18 a.m.
Comment on list classification: 6 patients reported, but only in one study.Created: 12 Aug 2016, 9:53 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. 6 patients reported in PMID: 24808023 with variants in AARS2: "The 6 patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. MRIs showed a leukoencephalopathy with striking involvement of left-right connections, descending tracts, and cerebellar atrophy. All female patients had ovarian failure. None of the patients had signs of a cardiomyopathy." The publication states "We did not find AARS2 mutations in the 2 patients with ovarioleukodystrophy". 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.Created: 12 Aug 2016, 9:47 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.
Phenotypes for AARS2 were set to Leukoencephalopathy with ovarian failure; General Leukodystrophy & Mitochondrial Leukoencephalopathy
This gene has been classified as Green List (High Evidence).
Publications for AARS2 were set to 25655951; 24808023; 25705216; 27251004
This gene has been classified as Green List (High Evidence).
Publications for AARS2 were set to 25655951; 24808023; 25705216
This gene has been classified as Amber List (Moderate Evidence).
Publications for AARS2 were set to 25655951;24808023
This gene has been classified as Amber List (Moderate Evidence).
Publications for AARS2 were set to 25655951
Phenotypes for AARS2 were set to Progressive leukoencephalopathy with ovarian failure; General Leukodystrophy & Mitochondrial Leukoencephalopathy
AARS2 was added to Inherited white matter disorderspanel. Sources: Expert list
AARS2 was created by [email protected]