ClinGen Dosage Sensitivity Curation Page

RARS2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)

Haploinsufficiency phenotype comments:

Variants in RARS2 have been identified in individuals with pontocerebellar hypoplasia type 6, an autosomal recessive condition.

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