Mitochondrial disorders
Gene: CARS2
Please note additional third case of CARS2 deficiency.Created: 27 Aug 2018, 10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 27, MIM#616672
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Additional case of epilepsy, intellectual impairment, dysphagia with gastric tube dependence, and autism spectrum disorder who presented with focal status epilepticus.in 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.
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.
Publications
Phenotypes for gene: CARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype to Combined oxidative phosphorylation deficiency 27 616672; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype
Gene: cars2 has been classified as Green List (High Evidence).
Publications for gene: CARS2 were set to
Victorian Clinical Genetics Services was added to CARS2. Panel: Mitochondrial disorders
Mode of inheritance for CARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
CARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
CARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen