CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 GeneticVariation disease BEFREE Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA) and retinitis pigmentosa. 30970040 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 Biomarker disease BEFREE The most commonly mutated gene in JBTS patients with a cerebello-retinal-renal phenotype is CEP290 (alias JBTS5). 31346239 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 Biomarker disease BEFREE Severe retinal degeneration that is early and aggressive is seen in disease caused by specific genes, such as CEP290- and AHI1-associated JS. 30055837 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 AlteredExpression disease BEFREE Here, we designed a spliceosome mediated pre-mRNA trans-splicing strategy to rescue expression of CEP290, which is associated with Leber congenital amaurosis type 10 (LCA10) and several syndromic diseases including Joubert syndrome. 30195768 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. 29398085 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 29588463 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 GeneticVariation disease BEFREE Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. 29217415 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 Biomarker disease BEFREE We demonstrate that hURECs from a JBTS patient with renal disease have elongated and disorganized primary cilia and that this ciliary phenotype is specifically associated with an absence of CEP290 protein. 28973549 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 Biomarker disease BEFREE Loss of CEP290 function is associated with retinal dystrophy, while loss of TMEM67 function is associated with liver fibrosis and coloboma, but we observe no clear-cut distinction between JS subtypes. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 GeneticVariation disease BEFREE Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome. 24850569 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 25445212 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 Biomarker disease BEFREE DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome. 26301811 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013