Unexplained kidney failure in young people
Gene: RPGRIP1LComment 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.
Phenotypes for gene: RPGRIP1L were changed from COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561 to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for RPGRIP1L were set to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
RPGRIP1L was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Phenotypes for RPGRIP1L were set to Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
RPGRIP1L was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN RPGRIP1L was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Green Model of inheritance for gene RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
RPGRIP1L was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red
RPGRIP1L was created by sleigh