Mitochondrial DNA Depletion Syndrome 1(MNGIE, TYMP-related)
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic 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-TK/4566 | mitochondrially encoded tRNA lysine | - | ChrMT, NC_012920.1 (8295..8364) |
70 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TYMP/1890 | thymidine phosphorylase | 22q13.33 | Chr22, NC_000022.11 (50525752..50530085, complement) |
4334 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SLC25A4/291 | solute carrier family 25 member 4 | 4q35.1 | Chr4, NC_000004.12 (185143266..185150382) |
7117 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MGME1/92667 | mitochondrial genome maintenance exonuclease 1 | 20p11.23 | Chr20, NC_000020.11 (17968590..17991122) |
22533 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | 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 |
| 6 | TFAM/7019 | transcription factor A, mitochondrial | 10q21.1 | Chr10, NC_000010.11 (58385410..58399220) |
13811 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | OPA1/4976 | OPA1 mitochondrial dynamin like GTPase | 3q29 | Chr3, NC_000003.12 (193593208..193697811) |
104604 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | MRM2/29960 | mitochondrial rRNA methyltransferase 2 | 7p22.3 | Chr7, NC_000007.14 (2234195..2242205, complement) |
8011 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | SLC25A21/89874 | solute carrier family 25 member 21 | 14q13.3 | Chr14, NC_000014.9 (36677921..37172606, complement) |
494686 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | SLC25A10/1468 | solute carrier family 25 member 10 | 17q25.3 | Chr17, NC_000017.11 (81712284..81721012) |
8729 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||