Unexplained kidney failure in young people
Gene: RRM2BComment 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.
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
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
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
RRM2B was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services
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
RRM2B was created by sleigh
RRM2B was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green