CEP41 Chromosome 7
Centrosomal protein 41
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What This Gene Does
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Associated Conditions (6)
Joubert syndrome 15
Familial Autism Spectrum Disorder
CEP41-related disorder
Intellectual disability
Inborn genetic diseases
Colorectal cancer
Key Variants
RS1050676312
Conflicting classifications of pathogenicity
Joubert syndrome 15, Joubert syndrome 15
Health Risk
RS141025803
Conflicting classifications of pathogenicity
Joubert syndrome 15, Familial Autism Spectrum Disorder, Joubert syndrome 15
Health Risk
RS142452124
Conflicting classifications of pathogenicity
Joubert syndrome 15, Joubert syndrome 15, Joubert syndrome 15
Health Risk
RS143303575
Conflicting classifications of pathogenicity
Joubert syndrome 15, Familial Autism Spectrum Disorder, CEP41-related disorder
Health Risk
RS147444165
Conflicting classifications of pathogenicity
Joubert syndrome 15, CEP41-related disorder, Joubert syndrome 15
Health Risk
RS147494464
Conflicting classifications of pathogenicity
Joubert syndrome 15, CEP41-related disorder, Joubert syndrome 15
Health Risk
RS184146463
Conflicting classifications of pathogenicity
Joubert syndrome 15, Inborn genetic diseases, Joubert syndrome 15
Health Risk
RS185337247
Conflicting classifications of pathogenicity
Joubert syndrome 15, Joubert syndrome 15
Health Risk
RS186685101
Conflicting classifications of pathogenicity
Joubert syndrome 15, Joubert syndrome 15
Health Risk
RS190680511
Conflicting classifications of pathogenicity
Joubert syndrome 15, CEP41-related disorder, Joubert syndrome 15
Health Risk
RS368525533
Conflicting classifications of pathogenicity
Joubert syndrome 15, Familial Autism Spectrum Disorder, Joubert syndrome 15
Health Risk
RS782286004
Conflicting classifications of pathogenicity
Joubert syndrome 15, Joubert syndrome 15
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1050676312 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Joubert syndrome 15 |
| RS141025803 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Familial Autism Spectrum Disorder, Joubert syndrome 15 |
| RS142452124 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Joubert syndrome 15, Joubert syndrome 15 |
| RS143303575 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Familial Autism Spectrum Disorder, CEP41-related disorder |
| RS147444165 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, CEP41-related disorder, Joubert syndrome 15 |
| RS147494464 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, CEP41-related disorder, Joubert syndrome 15 |
| RS184146463 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Inborn genetic diseases, Joubert syndrome 15 |
| RS185337247 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Joubert syndrome 15 |
| RS186685101 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Joubert syndrome 15 |
| RS190680511 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, CEP41-related disorder, Joubert syndrome 15 |
| RS368525533 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Familial Autism Spectrum Disorder, Joubert syndrome 15 |
| RS782286004 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Joubert syndrome 15 |
| RS782483563 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 15, Colorectal cancer, Joubert syndrome 15 |
| RS146662384 | Health Risk | Likely pathogenic | Familial Autism Spectrum Disorder, Familial Autism Spectrum Disorder |
| RS1584867379 | Health Risk | Likely pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS1796956272 | Health Risk | Likely pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS1797356889 | Health Risk | Likely pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS2536052433 | Health Risk | Likely pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS1315958299 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1584901211 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS1584916464 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS1797714974 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS1798139951 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS2117674119 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS2536060147 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS781815473 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15, CEP41-related disorder |
| RS781848162 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS782180322 | Health Risk | Pathogenic | Joubert syndrome 15, Joubert syndrome 15 |
| RS139123547 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 15, Inborn genetic diseases, Joubert syndrome 15 |