PLK4 Chromosome 4
Polo like kinase 4
Upload your DNA to see your personal genotypes for variants in PLK4.
What This Gene Does
This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Polo like kinase family
Locus Type
gene with protein product
Location
4q28.1
Ensembl
ENSG00000142731
Associated Conditions (6)
Inborn genetic diseases
See cases
Uveal melanoma
Microcephaly and chorioretinopathy 2
PLK4-related disorder
PLK4-related microcephaly and growth failure with or without ocular features
Key Variants
RS113867661
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1409755064
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS144633592
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149003893
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS35232579
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS367752526
Conflicting classifications of pathogenicity
Uveal melanoma, Uveal melanoma
Health Risk
RS374263658
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS543250835
Conflicting classifications of pathogenicity
Microcephaly and chorioretinopathy 2, PLK4-related disorder, Microcephaly and chorioretinopathy 2
Health Risk
RS56414190
Conflicting classifications of pathogenicity
Health Risk
RS574379856
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS724159996
Conflicting classifications of pathogenicity
Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2
Health Risk
RS751170471
Conflicting classifications of pathogenicity
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113867661 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1409755064 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS144633592 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149003893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS35232579 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS367752526 | Health Risk | Conflicting classifications of pathogenicity | Uveal melanoma, Uveal melanoma |
| RS374263658 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS543250835 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly and chorioretinopathy 2, PLK4-related disorder, Microcephaly and chorioretinopathy 2 |
| RS56414190 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS574379856 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS724159996 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2 |
| RS751170471 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756811050 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774505771 | Health Risk | Conflicting classifications of pathogenicity | PLK4-related disorder, PLK4-related disorder |
| RS1010560546 | Health Risk | Likely pathogenic | — |
| RS1379328798 | Health Risk | Likely pathogenic | — |
| RS1456235557 | Health Risk | Likely pathogenic | PLK4-related microcephaly and growth failure with or without ocular features, PLK4-related microcephaly and growth failure with or without ocular features |
| RS1473460404 | Health Risk | Likely pathogenic | Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2 |
| RS1735304403 | Health Risk | Likely pathogenic | — |
| RS2546013773 | Health Risk | Likely pathogenic | Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2 |
| RS2546024676 | Health Risk | Likely pathogenic | — |
| RS2546026570 | Health Risk | Likely pathogenic | — |
| RS1306520020 | Health Risk | Pathogenic | — |
| RS1472376292 | Health Risk | Pathogenic | — |
| RS1479590458 | Health Risk | Pathogenic | — |
| RS1560697035 | Health Risk | Pathogenic | — |
| RS1735288987 | Health Risk | Pathogenic | — |
| RS2148815189 | Health Risk | Pathogenic | — |
| RS2148816212 | Health Risk | Pathogenic | — |
| RS2148818274 | Health Risk | Pathogenic | — |
| RS2546012087 | Health Risk | Pathogenic | — |
| RS2546012393 | Health Risk | Pathogenic | — |
| RS2546012542 | Health Risk | Pathogenic | — |
| RS2546013620 | Health Risk | Pathogenic | — |
| RS2546024862 | Health Risk | Pathogenic | — |
| RS724159995 | Health Risk | Pathogenic | Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2 |
| RS748772971 | Health Risk | Pathogenic | — |
| RS772584110 | Health Risk | Pathogenic | — |
| RS772719023 | Health Risk | Pathogenic | — |
| RS781121267 | Health Risk | Pathogenic | — |
| RS968676193 | Health Risk | Pathogenic | — |
| RS2546018442 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2 |
| RS780106984 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2 |