ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

ASAH1

  • 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