ClinGen Dosage Sensitivity Curation Page

GUSB

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)

Haploinsufficiency phenotype comments:

Variants in GUSB have been reported in individuals with mucopolysaccharidosis type VII, an autosomal recessive condition.

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