CAKUT
Gene: RRM2BComment on list classification: Rating changed from green to red, as the phenotypic features associated with RRM2B variants are metabolic renal disease / renal tubulopathy. RRM2B is green on Mitochondrial disorders (https://panelapp.genomicsengland.co.uk/panels/112/gene/RRM2B/) and Inborn errors of metabolism (https://panelapp.genomicsengland.co.uk/panels/467/gene/RRM2B/) panels.Created: 26 May 2020, 2:33 p.m. | Last Modified: 26 May 2020, 2:33 p.m.
Panel Version: 1.151
This is a metabolic renal disease/tubulopathy gene rather than CAKUT.Created: 16 Jan 2020, 4:31 a.m. | Last Modified: 16 Jan 2020, 4:31 a.m.
Panel Version: 1.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RRM2B was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RRM2B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
RRM2B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen