The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium

The”Mitochondrial Disease Variant Curation Expert Panel”  is formed by the MSeqDR Consortium and members. It is going through the approval process by ClinGen,

Mitochondrial Disease Variant Curation Expert Panel


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.

Dr. Lishuang SHEN

Lishuang Shen MSeqDR WebMaster, Sr. Bioinformatics Scientist, Center for Personalized Medicine, Children's Hospital of Los Angeles, Email: lishen@chla.usc.edu, shen_lishuang@yahoo.com, Suite 300, 2100 W 3rd St, Los Angeles, CA 90057

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