MSeqDR Expert Panel Formation for Pathogenic Variant Review of MSeqDR-LSDB Supported Genes


    2016-04-18 MSeqDR Expert Panel Formation for Pathogenic Variant Review of MSeqDR-LSDB Supported Genes 2016-04-18


    The MSeqDR Consortium will be applying to ClinGen for 'Mitochondrial Disease Clinical Domain Working Group' status for all MSeqDR-supported genes. Therefore, we are inviting volunteers to form 鈥淓xpert Panels鈥� for gene association and variant pathogenicity review. This effort will be organized by the MSeqDR Consortium, as co-led by Drs. Marni Falk and Xiaowu Gai. Our application will be reviewed by ClinGen, with the goal of obtaining ClinGen Expert Panel designation.


    Should you choose to join an Expert Panel for one or more genes supported by MSeqDR, you will be responsible to review potentially pathogenic variants in mitochondrial-disease associated genes, including review of data for publically available gene variants, published variants, and private or novel variants submitted to MSeqDR ( by MSeqDR users. Working within your gene-specific expert group, you will need to review all available information provided and arrive at a consensus classification for the clinical significance of each genomic variant. MSeqDR provides semi-automated tools to facilitate your efforts, as well as for your gene-specific expert group to provide documentation, guideline of your review process and final determination of variant assertions. Subsequently, confirmed pathogenic variants will be submitted directly into ClinVar by the MSeqDR team through the MSeqDR-ClinVar collaboration.


    We need to follow ClinGen guidelines for Expert Panel formation. These Expert Panels, or Expert Committees, will consist of clinicians, laboratory personnel, bioinformaticians, and researchers from at least 2 separate institutions who will review variants in individual genes. The following Expert Committees have already been formed by volunteers, although more experts are needed and encouraged to participate:

     Mitochondrial DNA Expert Review Committee:

       Marcella Attimonelli
       Renkui Bai
       Anshu Bhardwaj
       Marie Lott
       Matt Dulik
       Christine Stanley


    POLG expert review committee:

       William C. Copeland (NIH/NIEHS)
       Laurie Kaguni (MSU/Finland)
       Renkui Bai (GeneDx)

     If you are interested in participating, please provide your name, telephone, email, institution, academic affiliation, area of expertise (clinician, clinical laboratory, bioinformatics, research), and gene of interest at the following link:

      Full memeber detail:

     Contact Us:

       Online submission:


         Coordinator: Dr. Marni Falk ( and Dr. Xiaowu Gai (

         Technical and website: Dr. Lishuang Shen (

    The mtDNA expert review committee:

      Prof. Vincent Procaccio, Dr. Marcella Attimonelli,Wallace, Doug (CHOP),Singh, Larry (CHOP), Dr. Renkui Bai,Zhang, Shiping (CHOP),Leipzig, Jeremy (CHOP), Dr. Anshu Bhardwaj, Dr. Marie Lott, Dr. Matt Dulik, Dr. Christine Stanley.

       William C. Copeland (NIH/NIEHS)


    The POLG expert review committee:

       Dr. Laurie Kaguni (MSU/Finland) Dr. William C. Copeland (NIH/NIEHS), and Dr. Renkui Bai (GeneDx).


    The TAZ expert review committee:


     Dr. Iris Gonzalez (BSF), Dr. Amelia Marrone,(Florence, Italy)


    More experts will be needed and are encouraged to participate.