Renal and urinary tract disorders
Gene: RRM2BEnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 21 panels
4 reviews
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reported in Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075Created: 5 Aug 2016, 10:19 a.m.
Comment on phenotypes: Also associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077 (monogenic)Created: 5 Aug 2016, 10:18 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Provided by reviewer.Created: 29 Mar 2016, 10:34 a.m.
Comment on list classification: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:33 a.m.
Helen Stuart (University of Manchester)
This gene is associated with a tubulopathy renal phenotype rather than CAKUTCreated: 18 Oct 2015, 6:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
- Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial liver disease, including transient infantile liver failure
- Likely inborn error of metabolism
- CAKUT
- Mitochondrial DNA maintenance disorder
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Unexplained kidney failure in young people
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Stuart: This gene is associated with a
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) for gene: RRM2B
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RRM2B was added gene: RRM2B was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)