Disease

Gaucher disease, type I1, 2

Gene

GBA

Inheritance AR
Current Treatments enzyme replacement therapy (ERT): imiglucerase (Cerezyme); velalglucerase alfa (VPRIV); and taliglucerase alfa (Elelyso) or substrate reduction therapy (SRT) miglustat. Ambroxol
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test glucocerebrosidase enzyme activity in leukocytes1
ClinGen https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC104
Disease Frequency (per 100,000) 1.944
Genes Included in Disease Frequency GBA
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Gaucher+Disease&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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