CAKUT
Gene: RPGRIP1LComment on list classification: Rating changed from green to red, as the phenotypic features associated with RPGRIP1L variants are ciliopathies and therefore not appropriate for the CAKUT panel. It is green on Renal ciliopathies (https://panelapp.genomicsengland.co.uk/panels/725/gene/RPGRIP1L/) and Rare multisystem ciliopathy disorders (https://panelapp.genomicsengland.co.uk/panels/150/gene/RPGRIP1L/) panels.Created: 26 May 2020, 1:25 p.m. | Last Modified: 26 May 2020, 2:34 p.m.
Panel Version: 1.151
Not a CAKUT gene really, as causes more ciliopathy related renal disease e.g. renal cysts, nephronophthisisCreated: 16 Jan 2020, 4:29 a.m. | Last Modified: 16 Jan 2020, 4:29 a.m.
Panel Version: 1.41
Comment on list classification: Discussed internally and promoted to green.Created: 25 Apr 2016, 1:01 p.m.
Comment on mode of inheritance: Sourced from OMIM and G2P.Created: 22 Apr 2016, 10:29 a.m.
Comment on list classification: Confirmed DD gene for MECKEL SYNDROME TYPE 5 and COACH SYNDROME, which have phenotypes related to abnormalities of the urinary system/renal defects.Created: 22 Apr 2016, 10:29 a.m.
Not a CAKUT gene pe seCreated: 18 Oct 2015, 9:09 p.m.
Gene: rpgrip1l has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RPGRIP1L was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
RPGRIP1L was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN