Familial aplasia of the vermis
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause Joubert syndrome, a human disorder associated with numerous ciliopathic defects, including renal cyst formation, linking phosphoinositides to ciliopathies.
|
27401686 |
2017 |
Familial aplasia of the vermis
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1.
|
29052317 |
2017 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
BEFREE |
Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging.
|
27998989 |
2017 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
BEFREE |
Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.
|
27927754 |
2017 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
BEFREE |
Fibroblasts from individuals with MKS1-related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E.
|
26490104 |
2016 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
|
26748598 |
2016 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
|
26748598 |
2016 |
Familial aplasia of the vermis
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Proteomic analysis identified INPP5E, whose mutations also lead to JS or mental retardation, obesity, congenital retinal dystrophy, and micropenis syndromes, as novel prenyl-dependent cargo of PDE6D.
|
24166846 |
2014 |
Familial aplasia of the vermis
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
|
23386033 |
2013 |
Familial aplasia of the vermis
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
|
23386033 |
2013 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
|
23386033 |
2013 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Previous studies have implicated primary cilia abnormalities in Joubert syndrome, yet the role of INPP5E in cilia formation is not well understood.
|
23022135 |
2012 |
Familial aplasia of the vermis
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
|
19668215 |
2009 |
Familial aplasia of the vermis
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation.
|
19668216 |
2009 |
Familial aplasia of the vermis
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation.
|
19668216 |
2009 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
CTD_human |
INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation.
|
19668216 |
2009 |
Familial aplasia of the vermis
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with JS.
|
12908130 |
2003 |
Familial aplasia of the vermis
|
0.780 |
Biomarker
|
disease |
HPO |
|
|
|