2. Add more LS/LLS disease-gene associations
3. Submit more pathogenic variant to MSeqDR, 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
6.Leigh Diseases
Add more LS/LLS disease-gene associations to work list)
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:
……..
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®:)
ClinGen Mitochondrial Disease Expert Panel (ClinGen Mito GCEP), Leigh and Leigh-Like Syndrome Gene-Disease Curation Progress
Gene Gene-Disease Record Status Creation Date SDHAF1 Leigh syndrome– Autosomal recessive inheritance IN PROGRESS 2019 Dec 08, 3:21 pm LRPPRC Leigh syndrome– Autosomal recessive inheritance PROVISIONAL 2019 Dec 06, 5:38 am NARS2 Leigh syndrome– Autosomal recessive inheritance IN PROGRESS 2019 Dec 05, 9:39 am NUBPL Leigh syndrome– Autosomal recessive inheritance PROVISIONAL 2019 Nov 14, 2:17 pm NDUFS8 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Nov 12, 5:32 am IARS2 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Nov 05, 12:54 pm GFM1 Leigh syndrome– Autosomal recessive inheritance PROVISIONAL 2019 Nov 02, 7:01 pm FOXRED1 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Oct 10, 10:15 am NDUFV1 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Oct 09, 9:10 am NDUFV2 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Oct 09, 7:55 am GFM2 Leigh syndrome– Autosomal recessive inheritance PROVISIONAL 2019 Oct 01, 10:05 am TACO1 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Oct 01, 7:07 am NDUFS2 Leigh syndrome– Autosomal recessive inheritance None 2019 Sep 26, 12:30 am UQCRQ Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Sep 25, 6:42 am NDUFS7 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Sep 24, 1:39 am NDUFA9 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Sep 23, 3:45 am NDUFA10 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Sep 19, 5:16 am NDUFAF5 Leigh syndrome– Autosomal recessive inheritance None 2019 Sep 18, 9:55 am NDUFA12 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Sep 18, 12:08 am FARS2 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Sep 10, 7:35 am BCS1L Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Sep 05, 1:13 pm TTC19 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Aug 01, 7:05 am NUP62 Leigh syndrome– Autosomal recessive inheritance None 2019 Jun 10, 2:25 pm LIPT1 Leigh syndrome– Autosomal recessive inheritance PROVISIONAL 2019 Jun 10, 10:59 am PTCD3 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 May 08, 6:51 am PET117 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 May 07, 6:39 pm ECHS1 Leigh syndrome– Autosomal recessive inheritance PROVISIONAL 2019 May 02, 10:47 am SDHA Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Apr 29, 10:03 am PET100 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Apr 29, 9:55 am MT-ATP6 Leigh syndrome– Mitochondrial inheritance None 2019 Apr 23, 1:22 pm COX15 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Apr 15, 9:31 am COX10 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Apr 08, 1:07 pm SUCLA2 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Apr 08, 6:10 am SUCLG1 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Mar 28, 2:42 pm SCO2 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Mar 27, 11:45 am NDUFA2 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Mar 13, 10:45 am NDUFS3 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Mar 12, 9:39 am NDUFS1 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Feb 28, 11:49 am NDUFA1 Leigh syndrome– X-linked inheritance APPROVED, PUBLISHED 2019 Feb 11, 10:45 am PDHA1 Leigh syndrome– X-linked inheritance APPROVED, PUBLISHED 2019 Jan 18, 12:57 pm NDUFS4 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2019 Jan 02, 11:33 am ETHE1 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2018 Dec 31, 11:05 am POLG Leigh syndrome– Autosomal recessive inheritance IN PROGRESS 2018 Nov 15, 11:47 am SLC19A3 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2018 Nov 14, 11:14 am SURF1 Leigh syndrome– Autosomal recessive inheritance APPROVED, PUBLISHED 2018 Oct 11, 10:08 am USMG5 Leigh syndrome– Autosomal recessive inheritance None 2018 Oct 11, 9:15 am 
