Leigh Syndrome Resources at MSeqDR.org

Dr. Lishuang SHEN MSeqDr.org News, updates, media report

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:
expandBrain Diseases, Metabolic, Inborn (D020739)
   Parent Node:
expandMitochondrial Diseases (D028361)
   Parent Node:
expandPyruvate 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)

Dr. Lishuang SHEN

Lishuang Shen MSeqDR WebMaster, Sr. Bioinformatics Scientist, Center for Personalized Medicine, Children's Hospital of Los Angeles, Email: lishen@chla.usc.edu, shen_lishuang@yahoo.com, Suite 300, 2100 W 3rd St, Los Angeles, CA 90057

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