• Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools
MSeqDR- the Mitochondrial Disease Sequence Data Resource ConsortiumMSeqDR – Mitochondrial disease diagnosis with new technology
  • Home
    • Team
    • Contact
    • Site map
    • Genesis
  • GBrowse
  • MSeqDR-LSDB
  • Tools
    • Events
    • Calendar
    • mtDNA Expert Panel
  • Phenome
  • Clinical
  • Submission
  • MSeqDR PhenoTips
  • Blog
Menu
  • Home
    • Team
    • Contact
    • Site map
    • Genesis
  • GBrowse
  • MSeqDR-LSDB
  • Tools
    • Events
    • Calendar
    • mtDNA Expert Panel
  • Phenome
  • Clinical
  • Submission
  • MSeqDR PhenoTips
  • Blog
  • The “Mitochondrial Disease Gene Curation Expert Panel” by MSeqDR Consortium

    July 30, 2018 Dr. Lishuang SHEN 0

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

     

    Contents

      • 0.1 ClinGen Clinical Domain Working Group
    • 1 Mitochondrial Disease Gene Curation Expert Panel
      • 1.1 Mito Disease GCEP Membership
        • 1.1.1 Executive Leadership
        • 1.1.2 Coordinators
        • 1.1.3 Executive Committee
        • 1.1.4 Members

    ClinGen Clinical Domain Working Group

    Mitochondrial Disease Gene Curation Expert Panel

    Affiliated to Inborn Errors of Metabolism Clinical Domain Working Group
    URL: https://www.clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism-clinical-domain-working-group/mitochondrial-disease-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, Leigh-like syndrome, and other pediatric mitochondrial encephalopathy syndromes. Overtime, 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.

    • Mito Disease GCEP Membership

    • List View
    • Grid View

    Executive Leadership

      • Marni J. Falk, MD
      • Marni J. Falk, MD
      • Xiaowu Gai, PhD
      • Xiaowu Gai, PhD

    Coordinators

      • Elizabeth M. McCormick, MS, LCGC
      • Elizabeth M. McCormick, MS, LCGC

    Executive Committee

      • Prof Shamima Rahman FRCP FRCPCH PhD
      • Prof Shamima Rahman FRCP FRCPCH PhD
      • Zarazuela Zolkipli-Cunningham, MBChB, MRCP
      • Zarazuela Zolkipli-Cunningham, MBChB, MRCP

    Members

      • Marcella Attimonelli, Associate Professor in Bioinformatics
      • Marcella Attimonelli, Associate Professor in Bioinformatics
      • Renkui Bai, PhD
      • Renkui Bai, PhD
      • Professor John Christodoulou  AM  MB BS PhD FRACP FFSc(RCPA) FRCPA
      • Professor John Christodoulou AM MB BS PhD FRACP FFSc(RCPA) FRCPA
      • William C. Copeland, PhD
      • William C. Copeland, PhD
      • George A. Diaz, MD, PhD
      • George A. Diaz, MD, PhD
      • Matthew C. Dulik, PhD
      • Matthew C. Dulik, PhD
      • Gregory Enns, MD
      • Gregory Enns, MD
      • Annette Feigenbaum, MD
      • Annette Feigenbaum, MD
      • Rebecca D. Ganetzky, MD
      • Rebecca D. Ganetzky, MD
      • Amy C. Goldstein, MD
      • Amy C. Goldstein, MD
      • Andrea Gropman, MD
      • Andrea Gropman, MD
      • Richard Haas, MB, BChir, MRCP
      • Richard Haas, MB, BChir, MRCP
      • Laurie Kaguni, PhD
      • Laurie Kaguni, PhD
      • Amel Karaa, MD
      • Amel Karaa, MD
      • Mary Kay Koenig, MD
      • Mary Kay Koenig, MD
      • Austin Larson, MD
      • Austin Larson, MD
      • Akira Ohtake, MD
      • Akira Ohtake, MD
      • Yasushi Okazaki, MD, PhD
      • Yasushi Okazaki, MD, PhD
      • Sumit Parikh, MD
      • Sumit Parikh, MD
      • Vincent Procaccio, MD, PhD
      • Vincent Procaccio, MD, PhD
      • Holger Prokisch, PhD
      • Holger Prokisch, PhD
      • Richard Rodenburg, PhD
      • Richard Rodenburg, PhD
      • Ann Saada Reisch, PhD
      • Ann Saada Reisch, PhD
      • Russell P. Saneto, DO, PhD
      • Russell P. Saneto, DO, PhD
      • Lishuang Shen, PhD
      • Lishuang Shen, PhD
      • Peter W. Stacpoole, MD, PhD
      • Peter W. Stacpoole, MD, PhD
      • Professor David Thorburn PhD FHGSA FFSc(RCPA)
      • Professor David Thorburn PhD FHGSA FFSc(RCPA)
      • Christine M. Stanley, PhD
      • Christine M. Stanley, PhD
      • Antonio Velazquez, MD, PhD
      • Antonio Velazquez, MD, PhD
      • Saskia Wortmann-Hagemann, MD, PhD
      • Saskia Wortmann-Hagemann, MD, PhD
      • Marc Yudkoff, MD
      • Marc Yudkoff, MD

    Categories: MSeqDr.org News, updates, media report

    MSeqDR presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium

    Leave a Reply Cancel reply

    You must be logged in to post a comment.

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

Pages

  • Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools

Tag Cloud

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

Tag Cloud

Pages

  • Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools

Search

Copyright © 2016 MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium Theme created by PWT. Powered by WordPress.org