Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
RRM2B Ribonucleotide reductase M2 B (TP53 inducible)(M)       | 8q23.1 | * Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.38, 16.51, 16.52)* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.38, 16.51, 16.52) |