Mitochondrial DNA maintenance disorder
Gene: RRM2B
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: RRM2B; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type); 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: RRM2B was added gene: RRM2B was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077