Unexplained young onset end-stage renal disease
Gene: RRM2B
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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.
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.
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
gene: RRM2B was added gene: RRM2B was added to Unexplained paediatric onset end-stage renal disease. 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 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075