ClinGen Dosage Sensitivity Curation Page

GLB1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)

Haploinsufficiency phenotype comments:

Variants in GLB1 have been reported in individuals with GM1-gangliosidosis and individuals with mucopolysaccharidosis type IVB, both autosomal recessive conditions.

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