Clinical Domain Working Groups

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.


ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines

The specification document linked below contains two sets of ACMG/AMP specifications from the ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel: 

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA

  • Scope: SLC19A3, PDHA1, POLG, ETHE1 

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA

  • Scope: Mitochondrial DNA (mtDNA) Genes 

Expert Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed
Develop Classification Rules
Completed
Pilot Rules
Completed
Expert Panel Approval
Completed May. 2020

Documents

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.


Chairs

Coordinators
Please contact a coordinator if you have questions.