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  3. RPGRIP1L
STRs in panel
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CAKUT

Gene: RPGRIP1L

Red List (low evidence)
RPGRIP1L (RPGRIP1 like)
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment 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
Created: 26 May 2020, 1:25 p.m.
Last Modified: 26 May 2020, 2:34 p.m.
Panel version: 1.148

chirag patel (Genetic Health Queensland)

Red List (low evidence)

Not a CAKUT gene really, as causes more ciliopathy related renal disease e.g. renal cysts, nephronophthisis
Created: 16 Jan 2020, 4:29 a.m. | Last Modified: 16 Jan 2020, 4:29 a.m.
Panel Version: 1.41
Created: 16 Jan 2020, 4:29 a.m.
Last Modified: 16 Jan 2020, 4:29 a.m.
Panel version: 1.41

Ellen McDonagh (Genomics England Curator)

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.
Created: 22 Apr 2016, 10:29 a.m.

Panel version: 0.71

Helen Stuart (University of Manchester)

Green List (high evidence)

Not a CAKUT gene pe se
Created: 18 Oct 2015, 9:09 p.m.
Created: 18 Oct 2015, 9:09 p.m.

Panel version: 0

History Filter Activity

26 May 2020, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rpgrip1l has been classified as Red List (Low Evidence).

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RPGRIP1L was changed to BIALLELIC, autosomal or pseudoautosomal

22 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPGRIP1L was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN