MSeqDR Working Groups & Expert Panels Approved by ClinGen

• Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel

• Mitochondrial Diseases Gene Curation Expert Panel

1. Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel

      Membership Documents 

Expert curation to assess variant pathogenicity in the most prevalent and/or actionable causes of Leigh syndrome, Leigh-like syndrome and pediatric-onset mitochondrial encephalopathy syndromes in both nuclear and mitochondrial DNA will be performed and facilitated by utilization of the Mitochondrial Disease Sequence Data Resource, MSeqDR. Over time, we will continue to broaden our focus to include variant curation for additional causes of primary mitochondrial diseases.

Expert Panel Approval:   May. 2020

Documents

 2. Mitochondrial Diseases 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 spectrum. Over time, 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 Approval: Jun. 2018

Documents