Rhabdomyolysis and Metabolic Myopathy

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 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Genereviews:
>50 families reported
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
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
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rrm2b has been classified as Green List (High Evidence).

15 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: RRM2B were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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