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Possible mitochondrial disorder - nuclear genes

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy, progressive, with ovarian failure, 615889

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: OMIM and the publications (compound hets or homozygous).
Created: 10 Feb 2016, 10:24 a.m.
Comment on list classification: Reviewer suggests this should be promoted from red to green, and there are multiple cases reported in PMID: 25058219, and one in PMID: 25058219.
Created: 10 Feb 2016, 10:23 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: AARS2 was added gene: AARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy, progressive, with ovarian failure, 615889