Leigh and Leigh-Like Syndrome Related Genes

Input HGNC Approved Gene Symbols, Refseq Gene Symbols, Entrez Gene IDs, Ensembl Gene IDs, Refseq Accession, OMIM, VEGA, or UCSC IDs

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Per gene details
Please save the BED (GRCh37, p13) file for the genes at leigh_syndrome_genes.bed , full data at leigh_syndrome_genes.tab.txt
1. PTCD3 Portal Exome E ENSG00000132300 G  GTR  H  U  HPA  GXA  GTEx  DC LSDB OMIM N

Variants: MSeqDR 0(0) LSDB, HGMD: , ClinVar: Variants in Leigh Syndrome

Pubmed:

Gene region 2:86333305..86369280

HGNC Gene: PTCD3, pentatricopeptide repeat domain 3; Alias_symbol: FLJ20758|DKFZp666K071; Previous_Symbols: ; ensembl_gene_id; ENSG00000132300; Refseq accession: NM_017952; OMIM ID: 614918; CCDS_ids: CCDS33235; VEGA_ids: OTTHUMG00000153168; uniprot_ids: Q96EY7

2. NDUFS1 Portal Exome E ENSG00000023228 G  GTR  H  U  HPA  GXA  GTEx  DC LSDB OMIM N

Variants: MSeqDR 64(56) LSDB, HGMD: 19, ClinVar: 38 Variants in Leigh Syndrome

Pubmed: 30349272, 30090137, 29718187, 29506874, 29297947

Gene region 2:206979541..207024327

HGNC Gene: NDUFS1, NADH:ubiquinone oxidoreductase core subunit S1; Alias_symbol: CI-75k; Previous_Symbols: ; ensembl_gene_id; ENSG00000023228; Refseq accession: NM_005006; OMIM ID: 157655; CCDS_ids: CCDS2366|CCDS56162|CCDS56163|CCDS56164|CCDS56165; VEGA_ids: OTTHUMG00000132892; uniprot_ids: P28331

Mitochondrial Disease: 252010, 618226OMIM 252010; MeSH: C1838979; Mitochondrial complex I deficiency, 252010
3. SDHA Portal Exome E ENSG00000073578 G  GTR  H  U  HPA  GXA  GTEx  DC LSDB OMIM N

Variants: MSeqDR 577(568) LSDB, HGMD: 44, ClinVar: 45 Variants in Leigh Syndrome

Pubmed: 30344007, 30201738, 30068732, 29772792, 29662271, 29518248, 29506874, 29478781, 29317722, 29314548, 29297947, 29296619, 29264396, 29142257, 29093766

Gene region 5:218356..256815

HGNC Gene: SDHA, succinate dehydrogenase complex flavoprotein subunit A; Alias_symbol: FP|SDHF; Previous_Symbols: SDH2; ensembl_gene_id; ENSG00000073578; Refseq accession: NM_004168; OMIM ID: 600857; CCDS_ids: CCDS3853|CCDS77992|CCDS82985; VEGA_ids: OTTHUMG00000090275; uniprot_ids: P31040

Mitochondrial Disease: 252011, CMD1GGOMIM 252011; MeSH: C1855008; Mitochondrial respiratory chain complex II deficiency, 252011 OMIM 256000; MeSH: C0023264; Leigh syndrome, 256000; LS OMIM 613642; MeSH: C3150898; Cardiomyopathy, dilated, 1GG, 613642; CMD1GG OMIM 614165; MeSH: C3279992; Paragangliomas 5, 614165; PGL5
4. NDUFS3 Portal Exome E ENSG00000213619 G  GTR  H  U  HPA  GXA  GTEx  DC LSDB OMIM N

Variants: MSeqDR 18(16) LSDB, HGMD: 3, ClinVar: 15 Variants in Leigh Syndrome

Pubmed: 30201738, 29506874, 29264396, 29142257

Gene region 11:47586888..47606114

HGNC Gene: NDUFS3, NADH:ubiquinone oxidoreductase core subunit S3; Alias_symbol: CI-30; Previous_Symbols: ; ensembl_gene_id; ENSG00000213619; Refseq accession: NM_004551; OMIM ID: 603846; CCDS_ids: CCDS7941; VEGA_ids: OTTHUMG00000166893; uniprot_ids: O75489

Mitochondrial Disease: 252010, 618230OMIM 252010; MeSH: C1838979; Mitochondrial complex I deficiency, 252010 OMIM 256000; MeSH: C0023264; Leigh syndrome, 256000; LS
5. PET100 Portal Exome E ENSG00000229833 G  GTR  H  U  HPA  GXA  GTEx  DC LSDB OMIM N

Variants: MSeqDR 2(2) LSDB, HGMD: 2, ClinVar: 2 Variants in Leigh Syndrome

Pubmed: 29495437, 29478781, 29062232

Gene region 19:7694623..7696842

HGNC Gene: PET100, PET100 homolog; Alias_symbol: ; Previous_Symbols: C19orf79; ensembl_gene_id; ENSG00000229833; Refseq accession: NM_001171155; OMIM ID: 614770; CCDS_ids: CCDS54208; VEGA_ids: ; uniprot_ids: P0DJ07

Mitochondrial Disease: 220110OMIM 220110; MeSH: C0268237; Mitochondrial complex IV deficiency, 220110
6. PET117 Portal Exome E ENSG00000232838 G  GTR  H  U  HPA  GXA  GTEx  DC LSDB OMIM N

Variants: MSeqDR 0(0) LSDB, HGMD: 1, ClinVar: Variants in Leigh Syndrome

Pubmed: 29495437

Gene region 20:18118517..18123813

HGNC Gene: PET117, PET117 homolog; Alias_symbol: CSRP2BP; Previous_Symbols: ; ensembl_gene_id; ENSG00000232838; Refseq accession: NM_001164811; OMIM ID: 614771; CCDS_ids: CCDS54450; VEGA_ids: OTTHUMG00000186019; uniprot_ids: Q6UWS5




Per gene details in table of one row per gene :
SNGeneGene_other_linksGene DescriptionHGMDClinVarDisease
1. PTCD3 Portal Exome E ENSG00000132300 G  GTR  H  U  HPA  GXA  GTEx  DCLSDB OMIM N
2. NDUFS1 Portal Exome E ENSG00000023228 G  GTR  H  U  HPA  GXA  GTEx  DCLSDB OMIM N 1938Mitochondrial Disease: 252010, 618226OMIM 252010; MeSH: C1838979; Mitochondrial complex I deficiency, 252010
3. SDHA Portal Exome E ENSG00000073578 G  GTR  H  U  HPA  GXA  GTEx  DCLSDB OMIM N 4445Mitochondrial Disease: 252011, CMD1GGOMIM 252011; MeSH: C1855008; Mitochondrial respiratory chain complex II deficiency, 252011 OMIM 256000; MeSH: C0023264; Leigh syndrome, 256000; LS OMIM 613642; MeSH: C3150898; Cardiomyopathy, dilated, 1GG, 613642; CMD1GG OMIM 614165; MeSH: C3279992; Paragangliomas 5, 614165; PGL5
4. NDUFS3 Portal Exome E ENSG00000213619 G  GTR  H  U  HPA  GXA  GTEx  DCLSDB OMIM N 315Mitochondrial Disease: 252010, 618230OMIM 252010; MeSH: C1838979; Mitochondrial complex I deficiency, 252010 OMIM 256000; MeSH: C0023264; Leigh syndrome, 256000; LS
5. PET100 Portal Exome E ENSG00000229833 G  GTR  H  U  HPA  GXA  GTEx  DCLSDB OMIM N 22Mitochondrial Disease: 220110OMIM 220110; MeSH: C0268237; Mitochondrial complex IV deficiency, 220110
6. PET117 Portal Exome E ENSG00000232838 G  GTR  H  U  HPA  GXA  GTEx  DCLSDB OMIM N 1