Rhabdomyolysis and metabolic muscle disorders

Gene: RRM2B

Green List (high evidence)

RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)
EnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 21 panels

1 review

Sarah Leigh (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, 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

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
OMIM
604712
Clinvar variants
Variants in RRM2B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RRM2B was created by sleigh

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

RRM2B was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN