Leukodystrophy - adult onset
Gene: AARS2

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

Created: 8 Sep 2023, 1:07 a.m.
Last Modified: 8 Sep 2023, 1:07 a.m.
Panel version: 0.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Leukoencephalopathy, progressive, with ovarian failure, 615889

OMIM

612035

Clinvar variants

Variants in AARS2

Penetrance

None

Panels with this gene

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

Leukodystrophy - adult onset Gene: AARS2