CKAP2L Chromosome 2
Cytoskeleton associated protein 2 like
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What This Gene Does
The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Associated Conditions (4)
Filippi syndrome
Inborn genetic diseases
Intellectual disability
Hypogonadism
Key Variants
RS201346406
Conflicting classifications of pathogenicity
Filippi syndrome, Filippi syndrome
Health Risk
RS35593767
Conflicting classifications of pathogenicity
Health Risk
RS766585648
Conflicting classifications of pathogenicity
Filippi syndrome, Inborn genetic diseases, Filippi syndrome
Health Risk
RS772245567
Conflicting classifications of pathogenicity
Filippi syndrome, Filippi syndrome
Health Risk
RS1574326802
Likely pathogenic
Health Risk
RS778989224
Likely pathogenic
Filippi syndrome, Filippi syndrome
Health Risk
RS1361993950
Pathogenic
Filippi syndrome, Filippi syndrome
Health Risk
RS1553442237
Pathogenic
Filippi syndrome, Filippi syndrome
Health Risk
RS1680053234
Pathogenic
Filippi syndrome, Filippi syndrome
Health Risk
RS201984824
Pathogenic
Filippi syndrome, Filippi syndrome
Health Risk
RS2467067801
Pathogenic
Filippi syndrome, Filippi syndrome
Health Risk
RS548949031
Pathogenic
Filippi syndrome, Filippi syndrome
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201346406 | Health Risk | Conflicting classifications of pathogenicity | Filippi syndrome, Filippi syndrome |
| RS35593767 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766585648 | Health Risk | Conflicting classifications of pathogenicity | Filippi syndrome, Inborn genetic diseases, Filippi syndrome |
| RS772245567 | Health Risk | Conflicting classifications of pathogenicity | Filippi syndrome, Filippi syndrome |
| RS1574326802 | Health Risk | Likely pathogenic | — |
| RS778989224 | Health Risk | Likely pathogenic | Filippi syndrome, Filippi syndrome |
| RS1361993950 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS1553442237 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS1680053234 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS201984824 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS2467067801 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS548949031 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS727502802 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS727502803 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS727502804 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS727502805 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS751000250 | Health Risk | Pathogenic | Intellectual disability, Hypogonadism, Filippi syndrome |
| RS781603729 | Health Risk | Pathogenic | Filippi syndrome, Filippi syndrome |
| RS2104884982 | Health Risk | Pathogenic/Likely pathogenic | Filippi syndrome, Filippi syndrome |
| RS755184431 | Health Risk | Pathogenic/Likely pathogenic | Filippi syndrome, Filippi syndrome |