rs771866500
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Familial aplasia of the vermis
0.010
GeneticVariation
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
rs1127152
SEC16A;INPP5E
Red Blood Cell Count measurement
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs757936530
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
0.700
GeneticVariation
UNIPROT
Defective ciliogenesis in INPP5E-related Joubert syndrome.
29052317
2017
rs763992407
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
0.700
GeneticVariation
UNIPROT
Defective ciliogenesis in INPP5E-related Joubert syndrome.
29052317
2017
rs746867724
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
A
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs752300607
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
T
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs754637179
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
A
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs757222534
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
A
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs775518991
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
C
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs780882740
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
T
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs863225197
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
C
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs863225198
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
A
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs863225199
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
C
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs863225200
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
T
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs863225201
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
A
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs863225202
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
G
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs1431917892
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Familial aplasia of the vermis
G
0.700
GeneticVariation
CLINVAR
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
23386033
2013
rs757936530
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
0.700
GeneticVariation
UNIPROT
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
23386033
2013
rs757936530
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
0.700
GeneticVariation
UNIPROT
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
23034536
2013
rs763992407
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
0.700
GeneticVariation
UNIPROT
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
23034536
2013
rs763992407
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
0.700
GeneticVariation
UNIPROT
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
23386033
2013
rs771866500
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
0.700
GeneticVariation
UNIPROT
Clinical utility gene card for: Joubert syndrome.
21448235
2011
rs121918130
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Familial aplasia of the vermis
A
0.700
GeneticVariation
CLINVAR
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
19668216
2009
rs1564430716
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Familial aplasia of the vermis
C
0.700
CausalMutation
CLINVAR
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
19668215
2009
rs757936530
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Joubert syndrome 1
0.700
GeneticVariation
UNIPROT
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
19668216
2009