ClinGen Dosage Sensitivity Curation Page

ARSA

  • Curation Status: Complete

Location Information

Select assembly: (NC_000022.10) (NC_000022.11)

Haploinsufficiency phenotype comments:

Autosomal recessive mutations in ARSA result in metachromatic leukodystrophy.

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