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 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

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

 

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

ClinGen Mitochondrial Disease Expert Panel (ClinGen Mito GCEP), Leigh and Leigh-Like Syndrome Gene-Disease Curation Progress

GeneGene-Disease RecordStatusCreation Date
SDHAF1 Leigh syndrome Autosomal recessive inheritance IN PROGRESS2019 Dec 08, 3:21 pm
LRPPRC Leigh syndrome Autosomal recessive inheritance PROVISIONAL2019 Dec 06, 5:38 am
NARS2 Leigh syndrome Autosomal recessive inheritance IN PROGRESS2019 Dec 05, 9:39 am
NUBPL Leigh syndrome Autosomal recessive inheritance PROVISIONAL2019 Nov 14, 2:17 pm
NDUFS8 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Nov 12, 5:32 am
IARS2 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Nov 05, 12:54 pm
GFM1 Leigh syndrome Autosomal recessive inheritance PROVISIONAL2019 Nov 02, 7:01 pm
FOXRED1 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Oct 10, 10:15 am
NDUFV1 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Oct 09, 9:10 am
NDUFV2 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Oct 09, 7:55 am
GFM2 Leigh syndrome Autosomal recessive inheritance PROVISIONAL2019 Oct 01, 10:05 am
TACO1 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Oct 01, 7:07 am
NDUFS2 Leigh syndrome Autosomal recessive inheritance None2019 Sep 26, 12:30 am
UQCRQ Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Sep 25, 6:42 am
NDUFS7 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Sep 24, 1:39 am
NDUFA9 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Sep 23, 3:45 am
NDUFA10 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Sep 19, 5:16 am
NDUFAF5 Leigh syndrome Autosomal recessive inheritance None2019 Sep 18, 9:55 am
NDUFA12 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Sep 18, 12:08 am
FARS2 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Sep 10, 7:35 am
BCS1L Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Sep 05, 1:13 pm
TTC19 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Aug 01, 7:05 am
NUP62 Leigh syndrome Autosomal recessive inheritance None2019 Jun 10, 2:25 pm
LIPT1 Leigh syndrome Autosomal recessive inheritance PROVISIONAL2019 Jun 10, 10:59 am
PTCD3 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 May 08, 6:51 am
PET117 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 May 07, 6:39 pm
ECHS1 Leigh syndrome Autosomal recessive inheritance PROVISIONAL2019 May 02, 10:47 am
SDHA Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Apr 29, 10:03 am
PET100 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Apr 29, 9:55 am
MT-ATP6 Leigh syndrome Mitochondrial inheritance None2019 Apr 23, 1:22 pm
COX15 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Apr 15, 9:31 am
COX10 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Apr 08, 1:07 pm
SUCLA2 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Apr 08, 6:10 am
SUCLG1 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Mar 28, 2:42 pm
SCO2 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Mar 27, 11:45 am
NDUFA2 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Mar 13, 10:45 am
NDUFS3 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Mar 12, 9:39 am
NDUFS1 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Feb 28, 11:49 am
NDUFA1 Leigh syndrome X-linked inheritance APPROVED,  PUBLISHED2019 Feb 11, 10:45 am
PDHA1 Leigh syndrome X-linked inheritance APPROVED,  PUBLISHED2019 Jan 18, 12:57 pm
NDUFS4 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2019 Jan 02, 11:33 am
ETHE1 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2018 Dec 31, 11:05 am
POLG Leigh syndrome Autosomal recessive inheritance IN PROGRESS2018 Nov 15, 11:47 am
SLC19A3 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2018 Nov 14, 11:14 am
SURF1 Leigh syndrome Autosomal recessive inheritance APPROVED,  PUBLISHED2018 Oct 11, 10:08 am
USMG5 Leigh syndrome Autosomal recessive inheritance None2018 Oct 11, 9:15 am
ClinGen Curation Interface

 

POLG