Rhabdomyolysis and Metabolic Myopathy
Gene: RRM2B
Single family reported with this phenotype, likely represents a continuum for a mitochondrial disorder rather than a separate entity.Created: 3 Mar 2022, 6:43 a.m. | Last Modified: 3 Mar 2022, 6:43 a.m.
Panel Version: 0.11115
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315
Publications
Genereviews:
>50 families reportedCreated: 21 Feb 2022, 3:52 a.m. | Last Modified: 21 Feb 2022, 3:52 a.m.
Panel Version: 0.11011
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: rrm2b has been classified as Green List (High Evidence).
Publications for gene: RRM2B were set to
gene: RRM2B was added gene: RRM2B was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to 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