ClinGen Dosage Sensitivity Curation Page

ST3GAL5

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)

Haploinsufficiency phenotype comments:

Mutations in ST3GAL5 are associated with Salt & pepper syndrome (also known as GM3 synthase deficiency) (Wang et al. 2013;Boccuto et al. 2014). This is an autosomal recessive condition.

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