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
-
- Paediatric pseudo-obstruction syndrome
- White matter disorders and cerebral calcification - narrow panel
- Unexplained young onset end-stage renal disease - additional genes
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial liver disease, including transient infantile liver failure
- CAKUT
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- DDG2P
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Intellectual disability
- Arthrogryposis
- Unexplained kidney failure in young people
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