Inherited white matter disorders

Gene: AARS2

Green List (high evidence)

AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 13 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_636

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

26 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AARS2 were set to Leukoencephalopathy with ovarian failure; General Leukodystrophy & Mitochondrial Leukoencephalopathy

26 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AARS2 were set to 25655951; 24808023; 25705216; 27251004

26 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AARS2 were set to 25655951; 24808023; 25705216

12 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AARS2 were set to 25655951;24808023

12 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Aug 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AARS2 were set to 25655951

12 Aug 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AARS2 were set to Progressive leukoencephalopathy with ovarian failure; General Leukodystrophy & Mitochondrial Leukoencephalopathy

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

AARS2 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

AARS2 was created by [email protected]