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  • Leigh Syndrome Resources at MSeqDR.org

    January 31, 2019 Dr. Lishuang SHEN 0

    Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org

    1. Leigh Syndrome Related Genes https://mseqdr.org/leighgene.php

    2. Add more LS/LLS Diseases,Genes, and the Gene – Disease Associations to Work List

    3. Pathogenic variant submission, using VCF/HGVS input format, then manage and complete annotations per variant.

    4. ClinGen Curation Interface at https://curation.clinicalgenome.org/dashboard/ called from MSeqDR https://mseqdr.org/mp.php?url=clingen

    5. U24 Grant 1U24HD093483-01: EXPERT CURATION OF PEDIATRIC MITOCHONDRIAL LEIGH-LIKE SYNDROME GENES AND VARIANTS

    6.Leigh Diseases

    Leigh Syndrome and Leigh-Like Diseases   (Add more LS/LLS diseases)
       Parent Node:
    expand
    Brain Diseases, Metabolic, Inborn (D020739)
       Parent Node:
    expand
    Mitochondrial Diseases (D028361)
       Parent Node:
    expand
    Pyruvate Metabolism, Inborn Errors (D015323)
        ..Starting node
     expandLeigh Disease in MSeqDR (D007888) Child12  LSDB C:3 L: 00015 OMIM®:256000
           Child Nodes:
    ……..expandLeigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255, OMIM®:266150)
    ……..expandLeigh syndrome , French Canadian type (C537004 OMIM®:220111)  LSDB  L: 00389;
    ……..expandLeigh Syndrome Due To Mitochondrial Complex I Deficiency (C564021 OMIM®:256000; 516001; 516002; 516005; 516006; 601825; 602137; 602694; 603834; 603835; 603846; 611766; 612392; 614530)
    ……..expandLeigh Syndrome Due To Mitochondrial Complex II Deficiency (C564961 OMIM®:256000)
    ……..expandLeigh Syndrome due to Mitochondrial Complex III Deficiency (C564962 OMIM®:256000 603647)
    ……..expandLeigh Syndrome due to Mitochondrial Complex IV Deficiency (C564963 OMIM®:185620; 256000; 602125; 603646)
    ……..expandLeigh Syndrome due to Mitochondrial Complex V Deficiency (C564964 OMIM®:256000)
    ……..expandLeigh Syndrome, X-Linked (C564114 OMIM®:)  LSDB  L: 00390;
    ……..expandMaternally Inherited Leigh Syndrome (C536035 OMIM®:)
    ……..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530 OMIM®:)  LSDB  L: 00433;
    ……..expandNecrotizing encephalopathy, infantile subacute, of Leigh (C538590 OMIM®:)

     ……..expandCoQ-responsive OXPHOS deficiency (C535470, OMIM®:608158)

    Categories: MSeqDr.org News, updates, media report

    MSeqDR’s ClinVar style variant submission system supports ClinVar template v4.2 (2018.08) mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report

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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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