Possible mitochondrial disorder - nuclear genes
Gene: AARS2
AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 13 panels
3 reviews
Ivone Leong (Genomics England Curator)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 8, 614096
- Leukoencephalopathy, progressive, with ovarian failure, 615889
- OMIM
- 612035
- Clinvar variants
- Variants in AARS2
- Penetrance
- None
- Panels with this gene
-
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Fetal anomalies
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Sudden death in young people
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
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