|
RPGRIP1L
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
JBTS-associated mutations in RPGRIP1L disrupt SMO accumulation at the transition zone and the ciliary localization of SMO.
|
28846093 |
2017 |
|
RPGRIP1L
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
RPGRIP1L
|
0.480 |
Biomarker
|
disease |
BEFREE |
NPHP8/RPGRIP1L is a novel ciliary gene that, when mutated, in addition to causing NPHP, also causes Joubert syndrome (JBTS) and Meckel syndrome (MKS).
|
21689635 |
2011 |
|
RPGRIP1L
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
|
RPGRIP1L
|
0.480 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
|
RPGRIP1L
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
|
19430481 |
2009 |
|
RPGRIP1L
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes.
|
19430481 |
2009 |
|
RPGRIP1L
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
|
18565097 |
2008 |
|
RPGRIP1L
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
|
18565097 |
2008 |
|
RPGRIP1L
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
|
17960139 |
2007 |
|
RPGRIP1L
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
|
17558409 |
2007 |
|
RPGRIP1L
|
0.480 |
Biomarker
|
disease |
BEFREE |
The recent identification of RPGRIP1L as a Joubert syndrome gene brings the total of known genes to five.
|
18046420 |
2007 |
|
RPGRIP1L
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
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.
|
17960139 |
2007 |
|
RPGRIP1L
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.
|
17558409 |
2007 |
|
RPGRIP1L
|
0.480 |
Biomarker
|
disease |
BEFREE |
This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder.
|
17558407 |
2007 |
|
RPGRIP1L
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
|
17558407 |
2007 |
|
RPGRIP1L
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|