Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: CARS2

Green List (high evidence)

CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000134905
EnsemblGeneIds (GRCh37): ENSG00000134905
OMIM: 612800, Gene2Phenotype
CARS2 is in 8 panels

4 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note additional third case of CARS2 deficiency.
Created: 27 Aug 2018, 10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Combined oxidative phosphorylation deficiency 27, MIM#616672


Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment on list classification: Additional case of epilepsy, intellectual impairment, dysphagia with gastric tube dependence, and autism spectrum disorder who presented with focal status a 13 year girl who was compound heterozygous for novel CARS2 variants (PMID 30139652).
Created: 16 Apr 2019, 1:46 p.m.
If sufficient evidence becomes available for this gene to be promoted to Green, the data should be assessed to see whether or not it is appropriate to add it to the Inherited white matter disorders, Epileptic encephalopathy or other panels (based on comments from Helen Britain)
Created: 19 Dec 2017, 4:23 p.m.

Ellen McDonagh (Genomics England Curator)

PMID: 25361775: homozygous c.655G>A mutation in the CARS2 gene cosegregating in a consanguineous family with 2 affected individuals whose clinical symptoms closely resembled MERRF (myoclonus epilepsy with ragged red fibers) syndrome. Followed up with analysis showed mutation resulted in deletion of exon 6; PMID: 25787132: detection of heterozygous compound mutations in CARS2 in a proband with an epileptic encephalopathy, complex movement disorder and a combined mitochondrial respiratory chain enzyme deficiency. Both mutations affect conserved amino acids within the functional ligase domain of the cysteinyl-tRNA synthase, and a decrease in the amount of charged mt-tRNA(Cys) was detected in patient fibroblasts compared with controls.
Created: 26 Feb 2016, 3:18 p.m.


Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
  • Combined oxidative phosphorylation deficiency 27 616672
Clinvar variants
Variants in CARS2
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to CARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 27 616672 for gene: CARS2 Publications for gene CARS2 were changed from to 25361775; 25787132; 30139652 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CARS2 was added gene: CARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype