Clinical Domain Working Groups
Mitochondrial Diseases Gene Curation Expert PanelMembership 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, 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 Panel Status - In progress
Gene-Disease Validity Standard Operating Procedures, Version 6Curation Activity Procedures - August 29, 2018
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.