Unexplained young onset end-stage renal disease
Gene: RPGRIP1L
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 phenotype in OMIM and G2P. Numerous variants reported in Joubert syndrome 7 611560, at least three variants reported in Meckel syndrome 5 611561 and two in COACH syndrome 216360Created: 5 Aug 2016, 10:13 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the CAKUT gene panelCreated: 17 Jun 2016, 10:08 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the CAKUT gene panelCreated: 17 Jun 2016, 10:08 a.m.
Comment on list classification: Syndromic - not relevant for this panel.Created: 10 May 2016, 12:36 p.m.
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.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jouberts syndrome type 7; Meckel syndrome type 5
Publications
Not a CAKUT gene pe seCreated: 18 Oct 2015, 9:09 p.m.
gene: RPGRIP1L was added gene: RPGRIP1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5 611561; Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 7 611560