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
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Leigh Syndrome and Leigh-Like Diseases
(Add more LS/LLS diseases)
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Parent Node:
 Brain Diseases, Metabolic, Inborn (D020739) |
Parent Node:
Mitochondrial Diseases (D028361) |
Parent Node:
Pyruvate Metabolism, Inborn Errors (D015323) |
..Starting node
 Leigh Disease in MSeqDR (D007888)  12  C:3 L: 00015 OMIM®:256000
| Child Nodes: |
| ……..CoQ-responsive OXPHOS deficiency (C535470, OMIM®:608158) |
| ……..Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255, OMIM®:266150) |
……..Leigh syndrome , French Canadian type (C537004 OMIM®:220111)  L: 00389; |
| ……..Leigh Syndrome Due To Mitochondrial Complex I Deficiency (C564021 OMIM®:256000; 516001; 516002; 516005; 516006; 601825; 602137; 602694; 603834; 603835; 603846; 611766; 612392; 614530) |
| ……..Leigh Syndrome Due To Mitochondrial Complex II Deficiency (C564961 OMIM®:256000) |
| ……..Leigh Syndrome due to Mitochondrial Complex III Deficiency (C564962 OMIM®:256000 603647) |
| ……..Leigh Syndrome due to Mitochondrial Complex IV Deficiency (C564963 OMIM®:185620; 256000; 602125; 603646) |
| ……..Leigh Syndrome due to Mitochondrial Complex V Deficiency (C564964 OMIM®:256000) |
| ……..Leigh Syndrome, X-Linked (C564114 OMIM®:) L: 00390; |
| ……..Maternally Inherited Leigh Syndrome (C536035 OMIM®:) |
| ……..Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530 OMIM®:) L: 00433; |
| ……..Necrotizing encephalopathy, infantile subacute, of Leigh (C538590 OMIM®:) |
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