Leigh Syndrome Explore Disorder's Alias
An Autosomal recessive, X-linked dominant, MT inheritance mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive, X-linked dominant, MT inheritance mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | MT-ATP6/4508 | mitochondrially encoded ATP synthase 6 | - | ChrMT, NC_012920.1 (8527..9207) |
681 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MT-ND6/4541 | mitochondrially encoded NADH dehydrogenase 6 | - | ChrMT, NC_012920.1 (14149..14673, complement) |
525 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | MT-ND5/4540 | mitochondrially encoded NADH dehydrogenase 5 | - | ChrMT, NC_012920.1 (12337..14148) |
1812 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MT-ND2/4536 | mitochondrially encoded NADH dehydrogenase 2 | - | ChrMT, NC_012920.1 (4470..5511) |
1042 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | MT-ND1/4535 | mitochondrially encoded NADH dehydrogenase 1 | - | ChrMT, NC_012920.1 (3307..4262) |
956 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | MT-ND3/4537 | mitochondrially encoded NADH dehydrogenase 3 | - | ChrMT, NC_012920.1 (10059..10404) |
346 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | ECHS1/1892 | enoyl-CoA hydratase, short chain 1 | 10q26.3 | Chr10, NC_000010.11 (133362485..133373354, complement) |
10870 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | LRPPRC/10128 | leucine rich pentatricopeptide repeat containing | 2p21 | Chr2, NC_000002.12 (43886224..43996265, complement) |
110042 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | SURF1/6834 | SURF1 cytochrome c oxidase assembly factor | 9q34.2 | Chr9, NC_000009.12 (133351758..133356487, complement) |
4730 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | NDUFS8/4728 | NADH:ubiquinone oxidoreductase core subunit S8 | 11q13.2 | Chr11, NC_000011.10 (68030681..68036644) |
5964 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | BCS1L/617 | BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 2q35 | Chr2, NC_000002.12 (218658743..218663443) |
4701 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | NDUFA10/4705 | NADH:ubiquinone oxidoreductase subunit A10 | 2q37.3 | Chr2, NC_000002.12 (239892442..240025342, complement) |
132901 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | NDUFS1/4719 | NADH:ubiquinone oxidoreductase core subunit S1 | 2q33.3 | Chr2, NC_000002.12 (206114817..206159444, complement) |
44628 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | NDUFAF2/91942 | NADH:ubiquinone oxidoreductase complex assembly factor 2 | 5q12.1 | Chr5, NC_000005.10 (60945205..61153026) |
207822 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | SDHA/6389 | succinate dehydrogenase complex flavoprotein subunit A | 5p15.33 | Chr5, NC_000005.10 (218320..268746) |
50427 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | DLD/1738 | dihydrolipoamide dehydrogenase | 7q31.1 | Chr7, NC_000007.14 (107891107..107921198) |
30092 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | NDUFS3/4722 | NADH:ubiquinone oxidoreductase core subunit S3 | 11p11.2 | Chr11, NC_000011.10 (47579074..47584562) |
5489 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | NDUFV1/4723 | NADH:ubiquinone oxidoreductase core subunit V1 | 11q13.2 | Chr11, NC_000011.10 (67606936..67612554) |
5619 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | COX15/1355 | cytochrome c oxidase assembly homolog COX15 | 10q24.2 | Chr10, NC_000010.11 (99694293..99732127, complement) |
37835 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | COX10/1352 | cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | 17p12 | Chr17, NC_000017.11 (14069504..14208677) |
139174 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | NDUFS7/374291 | NADH:ubiquinone oxidoreductase core subunit S7 | 19p13.3 | Chr19, NC_000019.10 (1383907..1395584) |
11678 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | MRPS34/65993 | mitochondrial ribosomal protein S34 | 16p13.3 | Chr16, NC_000016.10 (1771895..1773134, complement) |
1240 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | NDUFS4/4724 | NADH:ubiquinone oxidoreductase subunit S4 | 5q11.2 | Chr5, NC_000005.10 (53560639..53683338) |
122700 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | SCO1/6341 | synthesis of cytochrome C oxidase 1 | 17p13.1 | Chr17, NC_000017.11 (10672474..10697533, complement) |
25060 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | NDUFAF6/137682 | NADH:ubiquinone oxidoreductase complex assembly factor 6 | 8q22.1 | Chr8, NC_000008.11 (94895799..95118496) |
222698 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | MT-ND4/4538 | mitochondrially encoded NADH dehydrogenase 4 | - | ChrMT, NC_012920.1 (10760..12137) |
1378 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | MT-CO1/4512 | mitochondrially encoded cytochrome c oxidase I | - | ChrMT, NC_012920.1 (5904..7445) |
1542 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | MT-CO2/4513 | mitochondrially encoded cytochrome c oxidase II | - | ChrMT, NC_012920.1 (7586..8269) |
684 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | FASTKD2/22868 | FAST kinase domains 2 | 2q33.3 | Chr2, NC_000002.12 (206765606..206796189) |
30584 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | NDUFAF5/79133 | NADH:ubiquinone oxidoreductase complex assembly factor 5 | 20p12.1 | Chr20, NC_000020.11 (13785028..13821580) |
36553 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 31 | FOXRED1/55572 | FAD dependent oxidoreductase domain containing 1 | 11q24.2 | Chr11, NC_000011.10 (126269154..126278126) |
8973 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 32 | MRPL39/54148 | mitochondrial ribosomal protein L39 | 21q21.3 | Chr21, NC_000021.9 (25585656..25607859, complement) |
22204 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 33 | FBXL4/26235 | F-box and leucine rich repeat protein 4 | 6q16.1 | Chr6, NC_000006.12 (98868535..98947946, complement) |
79412 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 34 | IARS2/55699 | isoleucyl-tRNA synthetase 2, mitochondrial | 1q41 | Chr1, NC_000001.11 (220094132..220148041) |
53910 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 35 | VPS13D/55187 | vacuolar protein sorting 13 homolog D | 1p36.22 | Chr1, NC_000001.11 (12230030..12512047) |
282018 nt | 70 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |