Renal and urinary tract disorders
Gene: RPGRIP1LEnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels
5 reviews
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.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Syndromic - not relevant for this panel.Created: 10 May 2016, 12:36 p.m.
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.
Miranda Durkie (Genetics)
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
Helen Stuart (University of Manchester)
Not a CAKUT gene pe seCreated: 18 Oct 2015, 9:09 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- COACH syndrome 216360
- Joubert syndrome 7 611560
- Meckel syndrome 5 611561
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- None
- 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
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Retinal disorders
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Stuart: Not a CAKUT gene pe se
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: RPGRIP1L were changed from Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 to Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 for gene: RPGRIP1L
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: RPGRIP1L
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: RPGRIP1L was added gene: RPGRIP1L was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal