CEP78 Chromosome 9
Centrosomal protein 78
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What This Gene Does
This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]
Associated Conditions (23)
CEP78-related disorder
Moyamoya angiopathy
Cone-rod dystrophy and hearing loss 1
Retinal dystrophy
Thymoma
Melanoma
Lymphoma
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Cervical cancer
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Inborn genetic diseases
Cone-rod dystrophy
+3 more conditions
Key Variants
RS1040280976
Conflicting classifications of pathogenicity
Health Risk
RS1314816485
Conflicting classifications of pathogenicity
CEP78-related disorder, Moyamoya angiopathy, CEP78-related disorder
Health Risk
RS146563928
Conflicting classifications of pathogenicity
Cone-rod dystrophy and hearing loss 1, CEP78-related disorder, Retinal dystrophy
Health Risk
RS200752089
Conflicting classifications of pathogenicity
Health Risk
RS374257343
Conflicting classifications of pathogenicity
Health Risk
RS375721961
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thyroid cancer, nonmedullary
Health Risk
RS377012729
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS746861398
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754595005
Conflicting classifications of pathogenicity
Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
Health Risk
RS779953987
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1014151821
Likely pathogenic
Health Risk
RS1042726781
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1040280976 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1314816485 | Health Risk | Conflicting classifications of pathogenicity | CEP78-related disorder, Moyamoya angiopathy, CEP78-related disorder |
| RS146563928 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy and hearing loss 1, CEP78-related disorder, Retinal dystrophy |
| RS200752089 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374257343 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375721961 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Thyroid cancer, nonmedullary |
| RS377012729 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746861398 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754595005 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1 |
| RS779953987 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1014151821 | Health Risk | Likely pathogenic | — |
| RS1042726781 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1273366435 | Health Risk | Likely pathogenic | — |
| RS1363359148 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1363491382 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1478186269 | Health Risk | Likely pathogenic | — |
| RS1826338661 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2118219355 | Health Risk | Likely pathogenic | — |
| RS958872466 | Health Risk | Likely pathogenic | — |
| RS1057517691 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1 |
| RS1057517692 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Retinal dystrophy, Cone-rod dystrophy and hearing loss 1 |
| RS1057517693 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1 |
| RS1057517694 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy, Sensorineural hearing loss disorder |
| RS1057517695 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Sensorineural hearing loss disorder, Cone-rod dystrophy |
| RS1057518753 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1 |
| RS1192398258 | Health Risk | Pathogenic | — |
| RS1212299137 | Health Risk | Pathogenic | — |
| RS1261640800 | Health Risk | Pathogenic | — |
| RS1825933906 | Health Risk | Pathogenic | — |
| RS1826148463 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1826241208 | Health Risk | Pathogenic | — |
| RS1827340429 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS2118047238 | Health Risk | Pathogenic | — |
| RS2118243943 | Health Risk | Pathogenic | — |
| RS2118317438 | Health Risk | Pathogenic | — |
| RS2118341677 | Health Risk | Pathogenic | — |
| RS2118446474 | Health Risk | Pathogenic | — |
| RS2118460550 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Retinal dystrophy, Cone-rod dystrophy and hearing loss 1 |
| RS2489471559 | Health Risk | Pathogenic | — |
| RS2489471624 | Health Risk | Pathogenic | — |
| RS2489527464 | Health Risk | Pathogenic | — |
| RS2489534334 | Health Risk | Pathogenic | — |
| RS2489814330 | Health Risk | Pathogenic | — |
| RS2489838141 | Health Risk | Pathogenic | — |
| RS2489838840 | Health Risk | Pathogenic | — |
| RS745750156 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Familial pancreatic carcinoma, Cone-rod dystrophy and hearing loss 1 |
| RS749817667 | Health Risk | Pathogenic | — |
| RS755103128 | Health Risk | Pathogenic | — |
| RS759754640 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1 |
| RS760484787 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1 |