×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Familial aplasia of the vermis
0.780
GeneticVariation
CLINVAR
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
23386033
2013
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Familial aplasia of the vermis
0.780
CausalMutation
CLINVAR
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
19668215
2009
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
Familial aplasia of the vermis
0.780
GeneticVariation
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
×
Entrez Id:
54806
Gene Symbol:
AHI1
AHI1
Familial aplasia of the vermis
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
54806
Gene Symbol:
AHI1
AHI1
Familial aplasia of the vermis
0.700
CausalMutation
CLINVAR
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
16453322
2006
×
Entrez Id:
54806
Gene Symbol:
AHI1
AHI1
Familial aplasia of the vermis
0.700
CausalMutation
CLINVAR
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
16155189
2006
×
Entrez Id:
54806
Gene Symbol:
AHI1
AHI1
Familial aplasia of the vermis
0.700
GeneticVariation
CLINVAR
×
Entrez Id:
65250
Gene Symbol:
CPLANE1
CPLANE1
Familial aplasia of the vermis
0.690
GeneticVariation
CLINVAR
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
28719906
2017
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
28431631
2017
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Joubert syndrome: genotyping a Northern European patient cohort.
25920555
2016
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
26729329
2016
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
26035863
2015
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
23559409
2013
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
21068128
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
21866095
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
19574260
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
20232449
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
20607301
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Mutations of MKS3/TMEM67 , found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS ) type 6, are predominantly truncating mutations.
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
19540516
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
19058225
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
17397051
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Familial aplasia of the vermis
0.680
CausalMutation
CLINVAR
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
17377820
2007