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  • ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels

    July 2, 2020 Dr. Lishuang SHEN 0

    Contents

    • 1 MSeqDR Working Groups & Expert Panels Approved by ClinGen
    • 2 Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel
    • 3 Mitochondrial Diseases Gene Curation Expert Panel
    • 4 1. Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel
      • 4.1 Expert Panel Approval:   May. 2020
    • 5  2. Mitochondrial Diseases Gene Curation Expert Panel

    MSeqDR Working Groups & Expert Panels Approved by ClinGen

    • Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel

    • Mitochondrial Diseases Gene Curation Expert Panel

     

    1. Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel

          Affiliated to Inborn Errors of Metabolism CDWG

         URL: https://www.clinicalgenome.org/affiliation/50027/ 

          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.

    Expert Panel Approval:   May. 2020

    Documents

    •  

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

       Curation Activity Procedures – April 30, 2020

       Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel

       

     2. Mitochondrial Diseases Gene Curation Expert Panel

          Affiliated to Inborn Errors of Metabolism CDWG
          URL:  https://www.clinicalgenome.org/affiliation/40027/
          Membership Documents 

    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 spectrum. Over time, 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.

    Expert Panel Approval: Jun. 2018

    Documents

    •  
    •  

      Mitochondrial Diseases Gene Curation Expert Panel

       Conflict Of Interest (COI) – March 26, 2019

       Mitochondrial Diseases Gene Curation Expert Panel 

    •  Gene-Disease Validity Standard Operating Procedures, Version 6

       Curation Activity Procedures – August 29, 2018 Archived Document
       Gene Curation

    Categories: MSeqDr.org News, updates, media report

    ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications Recent publications from MSeqDR supported by the UMDF and NIH grants

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  • 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

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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

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