CEP290 Chromosome 12
Centrosomal protein 290
Upload your DNA to see your personal genotypes for variants in CEP290.
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 |
|---|---|---|---|
| RS2137624440 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Joubert syndrome, Meckel-Gruber syndrome |
| RS2137663442 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2137720951 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2138021345 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2138258171 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2499443322 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2499444300 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Joubert syndrome, Meckel-Gruber syndrome |
| RS2499472817 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2499744201 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499744612 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2499838601 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499860162 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499911272 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2499960522 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499974587 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500101115 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500113822 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500121621 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500524015 | Health Risk | Pathogenic/Likely pathogenic | Rod-cone dystrophy, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500524863 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS2500613493 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS2500742395 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500744133 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500867184 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501503340 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS2501710854 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 6, Leber congenital amaurosis, Senior-Loken syndrome 6 |
| RS267606719 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Joubert syndrome 5, Meckel syndrome |
| RS281865189 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS281865192 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 10, Retinitis pigmentosa, Nephronophthisis |
| RS368984997 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS369523378 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS370119681 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS373341530 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS386834149 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 4, Joubert syndrome |
| RS386834150 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 4, Meckel syndrome |
| RS386834153 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 4, Nephronophthisis |
| RS45502896 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 10, Meckel-Gruber syndrome, Nephronophthisis |
| RS561598805 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 5, Joubert syndrome, Meckel-Gruber syndrome |
| RS587779733 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS587783009 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 10, Joubert syndrome, Meckel-Gruber syndrome |
| RS62638179 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Nephronophthisis, Joubert syndrome |
| RS727503855 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS746305733 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS747239148 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS748471942 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Nephronophthisis, Joubert syndrome |
| RS751361090 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 4, Joubert syndrome |
| RS752144368 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS754728136 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS757641323 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS758329611 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |