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Acute rhabdomyolysis v0.6 RRM2B Arina Puzriakova commented on gene: RRM2B: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Amber but may be subject to review in the future.
Acute rhabdomyolysis v0.3 RRM2B Arina Puzriakova reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 19138848, 21646632, 19664747; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, OMIM:613077, Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Acute rhabdomyolysis v0.2 RRM2B Arina Puzriakova gene: RRM2B was added
gene: RRM2B was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 19138848; 21646632; 19664747
Phenotypes for gene: RRM2B were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, OMIM:613077; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075