ClinGen Dosage Sensitivity Curation Page

ADSL

  • Curation Status: Complete

Location Information

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

Haploinsufficiency phenotype comments:

Variants in ADSL have been reported in individuals with adenylosuccinase deficiency, an autosomal recessive condition.

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