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 |
|---|---|---|---|
| RS73192874 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Meckel syndrome |
| RS745494615 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS745522483 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis, Meckel-Gruber syndrome, Joubert syndrome |
| RS745813087 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 4, Senior-Loken syndrome 6 |
| RS746949236 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10 |
| RS747323414 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS748034744 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 5, Retinal dystrophy, Nephronophthisis |
| RS750099379 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS751895513 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS752046733 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 4, Bardet-Biedl syndrome 14 |
| RS752284551 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS752513342 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS752942122 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 14, Meckel syndrome, type 4 |
| RS754184488 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS755893750 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS756197493 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS756607245 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS757309583 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS757738553 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 10, Meckel syndrome, type 4 |
| RS759170743 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS759820573 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Joubert syndrome 5 |
| RS762217156 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS76267039 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS764240457 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS764861728 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS764963626 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS765002773 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS765709669 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6 |
| RS766265410 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS766355219 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS769362204 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS771707256 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS772603458 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS773578133 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS776360559 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 6, Joubert syndrome 5, Leber congenital amaurosis 10 |
| RS777299440 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS777353443 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 4, Bardet-Biedl syndrome 14 |
| RS77778467 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 10, Joubert syndrome 1, Joubert syndrome 5 |
| RS779010679 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Nephronophthisis, Meckel-Gruber syndrome |
| RS779550219 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS780570235 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS794727692 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS79644671 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 6, Joubert syndrome 5, Leber congenital amaurosis 10 |
| RS886049885 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 5, Leber congenital amaurosis 10, Senior-Loken syndrome 6 |
| RS934685879 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS974759127 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS997653455 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1006843385 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Retinal dystrophy, Bardet-Biedl syndrome 14 |
| RS1007902545 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1057517886 | Health Risk | Likely pathogenic | — |