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 |
|---|---|---|---|
| RS2499855165 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499857186 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499888150 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499888400 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499889148 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499907349 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499907989 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2499908343 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499914261 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499954741 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499955654 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499957266 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10 |
| RS2499957970 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499973191 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499986572 | Health Risk | Likely pathogenic | — |
| RS2499990885 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500010183 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500018615 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500064528 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500101737 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500106420 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500108266 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500111273 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500112760 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10 |
| RS2500119265 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500120486 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500121878 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2500121943 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2500234801 | Health Risk | Likely pathogenic | — |
| RS2500377103 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500522460 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500612408 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500627262 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500627365 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500631443 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500681450 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500736926 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, See cases, Bardet-Biedl syndrome 14 |
| RS2500737638 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500746572 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500759351 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500761561 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500764599 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2500813056 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500817128 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500817276 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500829215 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500865783 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, CEP290-related disorder, Bardet-Biedl syndrome 14 |
| RS2500933789 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2500938116 | Health Risk | Likely pathogenic | Rod-cone dystrophy, Rod-cone dystrophy |
| RS2500956116 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |