Leigh Syndrome Spectrum (LSS) Knowledge Portal

An integrated resource for LSS genetics, curation, and case data from the MSeqDR Consortium.

Leigh Syndrome Spectrum (LSS) Gene-Disease Relationships (GDR)


Systematic assessment of GDR evidence by the ClinGen Mito-GCEP. Use the search box to filter genes.
GeneGene-Disease-Relationship(GDR)StatusCreation 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

LSS Virtual Registry


This resource provides access to over 2,000 published LSS cases, established through extensive literature mining. The registry allows for exploration of clinical and genetic data grouped by various classes of information.
Access the LSS Virtual Registry

Note: A demo subset of 440 expertly annotated pseudo-cases is accessible with a "guest" account.

Leigh Disease Tree


An ontological representation of the Leigh Syndrome Spectrum and its subtypes.
Parent Node:
 expandBrain Diseases, Metabolic, Inborn (D020739)
Parent Node:
expandMitochondrial Diseases (D028361)
Parent Node:
expandPyruvate Metabolism, Inborn Errors (D015323)
..Starting node
..expandLeigh Disease    (D007888)

       Child Nodes:
........expandMEGDEL: 3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (OMIM:614739)  LSDB  L: 00484;
........expandCoQ-responsive OXPHOS deficiency (C535470)
........expandLeigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255)
........expandLeigh syndrome , French Canadian type (C537004)  LSDB  L: 00389;
........expandLeigh Syndrome Due To Mitochondrial Complex I Deficiency (C564021)
........expandLeigh Syndrome Due To Mitochondrial Complex II Deficiency (C564961)
........expandLeigh Syndrome due to Mitochondrial Complex III Deficiency (C564962)
........expandLeigh Syndrome due to Mitochondrial Complex IV Deficiency (C564963)
........expandLeigh Syndrome due to Mitochondrial Complex V Deficiency (C564964)
........expandLeigh Syndrome, X-Linked (C564114)
........expandMaternally Inherited Leigh Syndrome (C536035)
........expandMITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)  LSDB  L: 00529;
........expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
........expandNecrotizing encephalopathy, infantile subacute, of Leigh (C538590)

LSS Gene-Disease Relationship (GDR) Classification Overview


This figure provides a high-level summary of the LSS gene-disease relationship GDR classifications by the Mito-GCEP.
LSS Classification Overview