Familial aplasia of the vermis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Cilia are an essential component of signal transduction during embryonic development and the loss of TALPID3 function in humans can cause both severe lethal and mild cilia-related developmental disorders known as 'ciliopathies' the most common being Joubert syndrome.
|
31326647 |
2019 |
Familial aplasia of the vermis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Talpid3 mutant mice exhibit key hallmarks of JS including progressive ataxia, severely hypoplastic cerebellar hemispheres and vermis, together with abnormal decussation of the superior cerebellar peduncles.
|
30924151 |
2019 |
Familial aplasia of the vermis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KIAA0586/TALPID3 (TA3) cause Joubert syndrome, in which 30% of affected individuals develop retinal involvement.
|
29396404 |
2018 |
Familial aplasia of the vermis
|
0.670 |
GermlineCausalMutation
|
disease |
ORPHANET |
To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual.
|
26096313 |
2015 |
Familial aplasia of the vermis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual.
|
26096313 |
2015 |
Familial aplasia of the vermis
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
|
26437029 |
2015 |
Familial aplasia of the vermis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Truncating KIAA0586 mutations were identified in two additional patients with JBTS.
|
26386247 |
2015 |
Familial aplasia of the vermis
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual.
|
26096313 |
2015 |
Familial aplasia of the vermis
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual.
|
26096313 |
2015 |
Familial aplasia of the vermis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Our results show that biallelic deleterious mutations in KIAA0586 lead to Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
|
26386044 |
2015 |
Familial aplasia of the vermis
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual.
|
26096313 |
2015 |
Familial aplasia of the vermis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586.
|
26026149 |
2015 |
Familial aplasia of the vermis
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
|
26026149 |
2015 |
Familial aplasia of the vermis
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
|
26386247 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
JOUBERT SYNDROME 23
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
JOUBERT SYNDROME 23
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
|
26437029 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
KIAA0586 is Mutated in Joubert Syndrome.
|
26096313 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
|
26386247 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
|
26386044 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
KIAA0586 is Mutated in Joubert Syndrome.
|
26096313 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
KIAA0586 is Mutated in Joubert Syndrome.
|
26096313 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
|
26166481 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
KIAA0586 is Mutated in Joubert Syndrome.
|
26096313 |
2015 |
JOUBERT SYNDROME 23
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms.
|
26386247 |
2015 |