Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant 5(PEOA5)
An Autosomal dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant 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 | 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 |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities