CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Meckel syndrome type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 GeneticVariation disease BEFREE Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. 31840411 2020
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 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: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 Biomarker disease BEFREE In contrast, studying LCA10 and MKS fibroblasts we show moderate to severe cilia alterations, providing support for a correlation between disease severity and the ability of cells to express shortened, yet functional, CEP290 isoforms. 29771326 2018
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 Biomarker disease BEFREE 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617 2013
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 Biomarker disease BEFREE CEP290 has also been implicated in several cilia-related syndromic disorders including Meckel-Gruber syndrome, Joubert syndrome, Senor-Loken syndrome and Bardet-Biedl syndrome (BBS). 21257638 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 Biomarker disease GENOMICS_ENGLAND CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 GeneticVariation disease BEFREE One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (related disorders) (JS[RD]), Bardet-Biedl syndrome (BBS), to the lethal Meckel-Grüber syndrome (MKS). 20690115 2010
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 GeneticVariation disease BEFREE CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. 19058225 2009
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 GeneticVariation disease BEFREE Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber congenital amaurosis (LCA). 19764032 2009
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 GeneticVariation disease BEFREE Our findings add to the increasing body of evidence that ciliopathies can cause a broad spectrum of disease phenotypes, and pleiotropic effects of CEP290 mutations range from single organ involvement with isolated Leber congenital amaurosis to Joubert syndrome and lethal early embryonic multisystemic malformations in Meckel-Gruber syndrome. 17705300 2008
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 GeneticVariation disease BEFREE CEP290 mutations are also associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS). 18772192 2008
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.400 GeneticVariation disease BEFREE These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS. 17564974 2007