Leukodystrophy - adult onset

Gene: AARS2

Green List (high evidence)

AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 14 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

35084689;
- 46 patients identified with AARS2 related leukodystrophy
Created: 8 Sep 2023, 1:07 a.m. | Last Modified: 8 Sep 2023, 1:07 a.m.
Panel Version: 0.109

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
leukodystrophy MONDO:0019046

Publications

History Filter Activity

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AARS2 was added gene: AARS2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure, 615889