Unexplained kidney failure in young people
Gene: RRM2BEnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 21 panels
1 review
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- 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
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Intellectual disability
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
- Mitochondrial disorders
- Acute rhabdomyolysis
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Unexplained young onset end-stage renal disease - additional genes
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Upload gene information
Sarah Leigh (Genomics England Curator)RRM2B was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Created
Sarah Leigh (Genomics England Curator)RRM2B was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)RRM2B was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green