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 |
|---|---|---|---|
| RS863225182 | Health Risk | Pathogenic | Joubert syndrome 5, Meckel-Gruber syndrome, Joubert syndrome |
| RS863225183 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS863225184 | Health Risk | Pathogenic | Joubert syndrome 5, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225185 | Health Risk | Pathogenic | Joubert syndrome 5, Meckel syndrome, type 4 |
| RS863225186 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS863225187 | Health Risk | Pathogenic | Joubert syndrome 5, Bardet-Biedl syndrome 14, Joubert syndrome 5 |
| RS863225188 | Health Risk | Pathogenic | Joubert syndrome 5, Joubert syndrome 5 |
| RS863225189 | Health Risk | Pathogenic | Joubert syndrome 5, Joubert syndrome, Meckel-Gruber syndrome |
| RS867904492 | Health Risk | Pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS868347260 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS868858346 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS878853362 | Health Risk | Pathogenic | Retinal dystrophy, Nephronophthisis, Joubert syndrome |
| RS878853363 | Health Risk | Pathogenic | Retinal dystrophy, Joubert syndrome, Meckel-Gruber syndrome |
| RS886038694 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS886039808 | Health Risk | Pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS886042020 | Health Risk | Pathogenic | — |
| RS886042153 | Health Risk | Pathogenic | Cone-rod dystrophy, Joubert syndrome 1, Meckel-Gruber syndrome |
| RS886042734 | Health Risk | Pathogenic | — |
| RS886043303 | Health Risk | Pathogenic | Blindness, Global developmental delay, Nephronophthisis |
| RS886044332 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS903257336 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS908238464 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS965522059 | Health Risk | Pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS992032116 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1017496924 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1039146791 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 1, Nephronophthisis, Meckel-Gruber syndrome |
| RS1057518822 | Health Risk | Pathogenic/Likely pathogenic | Blindness, Nystagmus, Molar tooth sign on MRI |
| RS1157238971 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Meckel-Gruber syndrome, Nephronophthisis |
| RS1170451277 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Meckel-Gruber syndrome, Joubert syndrome |
| RS1177923180 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS1207944612 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1213286417 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS1219184437 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS1221464366 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 5, Meckel-Gruber syndrome, Nephronophthisis |
| RS1223251937 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1267970567 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1277316340 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1285349002 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS1287628446 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1288619268 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Joubert syndrome, Nephronophthisis |
| RS1292516576 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, Joubert syndrome 5 |
| RS1294402003 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1302558061 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1304430926 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1345613057 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Joubert syndrome 5, Nephronophthisis |
| RS1346690922 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, CEP290-related ciliopathy, Nephronophthisis |
| RS1364945778 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, CEP290-related disorder, Meckel-Gruber syndrome |
| RS1374014119 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1375836634 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS137852832 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 5, Meckel-Gruber syndrome, Nephronophthisis |