Rhabdomyolysis and metabolic muscle disorders
Gene: RRM2BEnsemblGeneIds (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
-
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- CAKUT
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Unexplained young onset end-stage renal disease - additional genes
- Possible mitochondrial disorder, nuclear genes
- Arthrogryposis
- Unexplained kidney failure in young people
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Mitochondrial DNA maintenance disorder
- DDG2P
- Acute rhabdomyolysis
- Mitochondrial liver disease
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Created
Sarah Leigh (Genomics England Curator)RRM2B was created by sleigh
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