-
The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium
July 30, 2018 Dr. Lishuang SHEN 0
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.
Executive Leadership
Coordinators
Executive Committee
Members
Leadership
Coordinators
Please contact a coordinator if you have questions.
Elizabeth M. McCormick, MS, LCGC
Membership
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
Categories: MSeqDr.org News, updates, media report
The “Mitochondrial Disease Gene Curation Expert Panel” by MSeqDR Consortium ClinVar style variant submission and curation system version 2 is released
Recent Posts
- Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
- gnoMAD shares mtDNA variant data from 56,434 whole genome samples
- mvTool v.6: The mtDNA variant reference based on 316,530 whole genome sequences
- MSeqDR is migrated to a new webserver at CHLA
- International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
- mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
- Recent publications from MSeqDR supported by the UMDF and NIH grants
- ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
- ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
- U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen