ClinGen Dosage Sensitivity Curation Page

AARS

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Missense variants in the AARS gene are associated with autosomal dominant CMT2N. In addition, Simons et al., 2015 (PMID 25817015) report two missense variants associated with autosomal recessive epileptic encephalopathy. Other types of variants have not been reported in the AARS gene. Functional studies of AARS missense variants, as well as missense variants in other related tRNA synthetases (summarized in PMID 27352040), have not established haploinsufficiency as a disease mechanism.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity