Acute rhabdomyolysis
Gene: RRM2BEnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 21 panels
1 review
Arina Puzriakova (Genomics England Curator)
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.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
RRM2B is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Mitochondrial myopathy including skeletal muscle weakness and exercise intolerance but can not find clear evidence of acute rhabdomyolysis in literature.Created: 19 Jan 2022, 5:51 p.m. | Last Modified: 19 Jan 2022, 5:51 p.m.
Panel Version: 0.3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Phenotypes
-
- 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
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Arthrogryposis
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Unexplained kidney failure in young people
- Mitochondrial disorders
- DDG2P
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Unexplained young onset end-stage renal disease - additional genes
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)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