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 |
|---|---|---|---|
| RS1060499781 | Health Risk | Likely pathogenic | Joubert syndrome 5, Meckel-Gruber syndrome, Nephronophthisis |
| RS1064797171 | Health Risk | Likely pathogenic | — |
| RS1184012636 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1192112844 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS1196938557 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1201691161 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1206723575 | Health Risk | Likely pathogenic | — |
| RS1209421607 | Health Risk | Likely pathogenic | Meckel syndrome, type 4, Meckel syndrome |
| RS1223217246 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1233939358 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1237799214 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS1306782857 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1318951892 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1340725042 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1345994179 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1369768287 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS1381940328 | Health Risk | Likely pathogenic | Leber congenital amaurosis 10, Leber congenital amaurosis 10 |
| RS1397256061 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1434632102 | Health Risk | Likely pathogenic | Joubert syndrome 1, Joubert syndrome 1 |
| RS1474521702 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1476248618 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1555200648 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1555202126 | Health Risk | Likely pathogenic | Occipital encephalocele, Cystic renal dysplasia, Occipital encephalocele |
| RS1555213161 | Health Risk | Likely pathogenic | — |
| RS1565835538 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Joubert syndrome, Meckel-Gruber syndrome |
| RS1592550848 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1592671618 | Health Risk | Likely pathogenic | — |
| RS1592676397 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1592836704 | Health Risk | Likely pathogenic | Joubert syndrome 1, Joubert syndrome 1 |
| RS2034579427 | Health Risk | Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2034579709 | Health Risk | Likely pathogenic | Joubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10 |
| RS2035405646 | Health Risk | Likely pathogenic | — |
| RS2035880971 | Health Risk | Likely pathogenic | Retinal dystrophy, Nephronophthisis, Joubert syndrome |
| RS2035898709 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2036722229 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2037228556 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2037229663 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2037480294 | Health Risk | Likely pathogenic | CEP290-related disorder, Leber congenital amaurosis 10, Meckel syndrome |
| RS2037480406 | Health Risk | Likely pathogenic | CEP290-related disorder, Joubert syndrome, Nephronophthisis |
| RS2038012556 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2038668800 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2038702746 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Meckel-Gruber syndrome, Joubert syndrome |
| RS2038915208 | Health Risk | Likely pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS2039897317 | Health Risk | Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2039902653 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2040047006 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2040496521 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2136547201 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2136547710 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2136637204 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |