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: 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:

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