Progressive External Ophthalmoplegia(progressive external opthalmoplagia)
An Unknown mode(s) within the Metabolic disorders category
Candidate Gene Information
An Unknown mode(s) within the Metabolic 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 | TWNK/56652 | twinkle mtDNA helicase | 10q24.31 | Chr10, NC_000010.11 (100987543..100994403) |
6861 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | POLG2/11232 | DNA polymerase gamma 2, accessory subunit | 17q23.3 | Chr17, NC_000017.11 (64477785..64497054, complement) |
19270 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | RRM2B/50484 | ribonucleotide reductase regulatory TP53 inducible subunit M2B | 8q22.3 | Chr8, NC_000008.11 (102204501..102238961, complement) |
34461 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MT-TL1/4567 | mitochondrially encoded tRNA leucine 1 (UUA/G) | - | ChrMT, NC_012920.1 (3230..3304) |
75 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | POLG/5428 | DNA polymerase gamma, catalytic subunit | 15q26.1 | Chr15, NC_000015.10 (89316320..89334824, complement) |
18505 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | 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 |
| 7 | TK2/7084 | thymidine kinase 2 | 16q21 | Chr16, NC_000016.10 (66508003..66550291, complement) |
42289 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | DGUOK/1716 | deoxyguanosine kinase | 2p13.1 | Chr2, NC_000002.12 (73926880..73958946) |
32067 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | RNASEH1/246243 | ribonuclease H1 | 2p25.3 | Chr2, NC_000002.12 (3531813..3558333, complement) |
26521 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | TOP3A/7156 | DNA topoisomerase III alpha | 17p11.2 | Chr17, NC_000017.11 (18271428..18314994, complement) |
43567 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | RRM1/6240 | ribonucleotide reductase catalytic subunit M1 | 11p15.4 | Chr11, NC_000011.10 (4094685..4138932) |
44248 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||