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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 |