ClinGen Dosage Sensitivity Curation Page

SGSH

  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)

Haploinsufficiency phenotype comments:

Variants in SGSH have been reported in association with Mucopolysaccharidosis type IIIA (Sanfillipo syndrome type A), an autosomal recessive condition.

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