Unexplained kidney failure in young people
Gene: RPGRIP1LEnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels
1 review
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert
- Phenotypes
-
- COACH syndrome 216360
- Joubert syndrome 7 611560
- Meckel syndrome 5 611561
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- Complete
- Panels with this gene
-
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- VACTERL-like phenotypes
- Cholestasis
- CAKUT
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Neurological ciliopathies
- Retinal disorders
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RPGRIP1L were set to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Upload gene information
Sarah Leigh (Genomics England Curator)RPGRIP1L was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RPGRIP1L were set to Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)RPGRIP1L was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red
Created
Sarah Leigh (Genomics England Curator)RPGRIP1L was created by sleigh