CEP290 Chromosome 12
Centrosomal protein 290
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What This Gene Does
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MKS complex
Locus Type
gene with protein product
Location
12q21.32
Ensembl
ENSG00000198707
Associated Conditions (61)
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome
type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Hepatocellular carcinoma
Inborn genetic diseases
CEP290-related disorder
Intellectual disability
Retinal dystrophy
Retinitis pigmentosa
Kidney disorder
CEP290-related ciliopathy
Joubert syndrome 1
Atypical hemolytic-uremic syndrome
+41 more conditions
Key Variants
RS1036812157
Conflicting classifications of pathogenicity
Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS11104729
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 14, Joubert syndrome 5, Leber congenital amaurosis 10
Health Risk
RS1159465602
Conflicting classifications of pathogenicity
Senior-Loken syndrome 6, Meckel syndrome, type 4
Health Risk
RS1165909730
Conflicting classifications of pathogenicity
Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS117370446
Conflicting classifications of pathogenicity
Meckel syndrome, type 4, Bardet-Biedl syndrome 14
Health Risk
RS117852025
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
Health Risk
RS11836796
Conflicting classifications of pathogenicity
Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS1200834763
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
Health Risk
RS1213124542
Conflicting classifications of pathogenicity
Retinal dystrophy, CEP290-related disorder, Retinal dystrophy
Health Risk
RS1301659851
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis
Health Risk
RS1330745435
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
Health Risk
RS1340148485
Conflicting classifications of pathogenicity
Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome
Health Risk
All Variants (892)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS758991387 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS760653238 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS760915898 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS761907569 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS762633090 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Nephronophthisis, Joubert syndrome |
| RS763473957 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 4, Bardet-Biedl syndrome 14 |
| RS763762899 | Health Risk | Pathogenic/Likely pathogenic | Micrognathia, Hypotonia, Global developmental delay |
| RS765483163 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS766259648 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS766285443 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Joubert syndrome 5, CEP290-related disorder |
| RS767231715 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS767426153 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS768065164 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS770175184 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS771454167 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 5, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6 |
| RS771864158 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Joubert syndrome, Nephronophthisis |
| RS771939468 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Joubert syndrome, Meckel-Gruber syndrome |
| RS773386777 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Bardet-Biedl syndrome 14, Nephronophthisis |
| RS773525033 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS773622064 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS773642187 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS774490795 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Nephronophthisis, Joubert syndrome |
| RS775189201 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS775969711 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS777464278 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS778030031 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS778407127 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS778907433 | Health Risk | Pathogenic/Likely pathogenic | Rod-cone dystrophy, Meckel-Gruber syndrome, Joubert syndrome |
| RS780954447 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Nephronophthisis, Joubert syndrome |
| RS781310385 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS867094910 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS868148490 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS868650061 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS878853360 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Nephronophthisis, Joubert syndrome |
| RS878896889 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Bardet-Biedl syndrome 14, Nephronophthisis |
| RS879447211 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS886042359 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS886042360 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis, Nephronophthisis, Joubert syndrome |
| RS886042467 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS897997464 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS968692633 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis, Joubert syndrome, Meckel-Gruber syndrome |
| RS995093343 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |