Clinical Domain Working Groups
Cerebellar Ataxia Gene Curation Expert Panel
MembershipThe focus of the ClinGen Ataxia Gene Curation Expert Panel (GCEP) is monogenic disorders causing phenotypes that include cerebellar ataxia, either in isolation or as a predominant feature of a complex syndrome. To prevent confusion regarding this point, it is important to clarify that the Ataxia GCEP will not be curating genes solely on the symptom of ataxia but on the full spectrum of disease associated with each gene to be curated. The Ataxia GCEP will utilize the ClinGen Gene-Disease Clinical Validity framework to assess clinical validity for genes associated with phenotypes that include cerebellar ataxia. This may include genes with ataxia as the principal diagnostic clinical finding as well as those with ataxia as a common major secondary clinical finding in the setting of a more complex syndrome.
Expert Panel Status - Approved Expert Panel
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.