Mitochondrial disorders
Gene: AARS2EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 13 panels
2 reviews
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 8, 614096
- infantile mitochondrial cardiomyopathy
- OMIM
- 612035
- Clinvar variants
- Variants in AARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary ovarian insufficiency
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Adult onset leukodystrophy
- Sudden death in young people
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to AARS2. Panel: Mitochondrial disorders
Set publications
Ellen McDonagh (Genomics England Curator)Publications for AARS2 were set to PMID: 21549344; 25058219
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for AARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096
Set publications
Ellen McDonagh (Genomics England Curator)Publications for AARS2 were set to PMID: 21549344; 25058219
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for AARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for AARS2 were set to PMID: 21549344
Added New Source
Ellen McDonagh (Genomics England Curator)AARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)AARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)AARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen