ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)

Haploinsufficiency phenotype comments:

Variants in ASAH1 have been associated with both Farber lipogranulomatosis and spinal muscular atrophy with progressive myocloinic epilepsy, which are both autosomal recessive conditions.

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