Mitochondrial Disease Gene Curation Expert Panel

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, Leigh-like syndrome, and other pediatric mitochondrial encephalopathy syndromes. 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 Status - In progress

Step 1
Step 2
Define Group
In progress
Expert Panel Approval


Marni J. Falk, MD

Xiaowu Gai, PhD


Please contact a coordinator if you have questions.

Elizabeth M. McCormick, MS, LCGC


Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Elizabeth M. McCormick, MS, LCGC


A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.