Clinical Domain Working Groups

Mitochondrial Diseases Gene Curation Expert Panel

Membership Documents

With the rapid increase in identified genes that cause mitochondrial disorders in children, the high degree of clinical heterogeneity of these patients, and a lack of community consensus on nomenclature using classical tissue pathology criteria, expert curation of gene-disease associations will enable the development of clinical practice guidelines for diagnosis and management of the overall disease class versus major subtypes. We will review the gene-disease relationship for approximately 90 genes that cause Leigh syndrome spectrum. Overtime, we will curate additional genes related to primary mitochondrial disease. We have brought together leading international experts to collaboratively work to analyze all relevant data and to achieve consensus in this gene-disease curation effort.

Expert Panel Status - Approved Expert Panel

Step 1
Step 2
Define Group
Expert Panel Approval
Completed Jun. 2018


Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.


Please contact a coordinator if you have questions.