Gene: RPGRIP1L
Alternate names for this Gene: CORS3|FTM|JBTS7|MKS5|NPHP8|PPP1R134
Gene Summary: The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5).
Gene is located in Chromosome: 16
Location in Chromosome : 16q12.2
Description of this Gene: RPGRIP1 like
Type of Gene: protein-coding
rs16952362 in
RPGRIP1L gene and
Body mass index
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
rs267607020 in
RPGRIP1L gene and
COACH syndrome
PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.
rs73607972 in
RPGRIP1L gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.
rs121918198 in
RPGRIP1L gene and
Familial aplasia of the vermis
PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
PMID 17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
PMID 18565097 2008 RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
PMID 17960139 2007 Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations.
PMID 19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
PMID 17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
rs121918198 in
RPGRIP1L gene and
JOUBERT SYNDROME 7
PMID 17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
PMID 17960139 2007 Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
PMID 22693042 2012 Molecular characterization of Joubert syndrome in Saudi Arabia.
PMID 17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
PMID 17553904 2007 Ftm is a novel basal body protein of cilia involved in Shh signalling.
rs151332923 in
RPGRIP1L gene and
MECKEL SYNDROME, TYPE 5
PMID 17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
PMID 21368913 2011 Clinical utility gene card for: Meckel syndrome.
PMID 19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
rs121918198 in
RPGRIP1L gene and
Meckel-Gruber syndrome
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
PMID 17960139 2007 Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
PMID 18565097 2008 RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
PMID 19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
PMID 17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
PMID 17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
rs3213758 in
RPGRIP1L gene and
Vitiligo
PMID 23678272 2013 Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.