IFT52 Chromosome 20
Intraflagellar transport 52
Upload your DNA to see your personal genotypes for variants in IFT52.
What This Gene Does
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
IFT-B1 complex
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000101052
Associated Conditions (5)
IFT52-related disorder
Melanoma
Cholangiocarcinoma
Short-rib thoracic dysplasia 16 with or without polydactyly
Short rib-polydactyly syndrome
Key Variants
RS111901323
Conflicting classifications of pathogenicity
IFT52-related disorder, IFT52-related disorder
Health Risk
RS145627647
Conflicting classifications of pathogenicity
IFT52-related disorder, Melanoma, Cholangiocarcinoma
Health Risk
RS886037869
Likely pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 16 with or without polydactyly
Health Risk
RS1983651325
Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly
Health Risk
RS1984074001
Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly
Health Risk
RS530999984
Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly
Health Risk
RS748090019
Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly
Health Risk
RS757301165
Pathogenic
Health Risk
RS886037870
Pathogenic/Likely pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 16 with or without polydactyly
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111901323 | Health Risk | Conflicting classifications of pathogenicity | IFT52-related disorder, IFT52-related disorder |
| RS145627647 | Health Risk | Conflicting classifications of pathogenicity | IFT52-related disorder, Melanoma, Cholangiocarcinoma |
| RS886037869 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 16 with or without polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 16 with or without polydactyly |
| RS1983651325 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly |
| RS1984074001 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly |
| RS530999984 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly |
| RS748090019 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly |
| RS757301165 | Health Risk | Pathogenic | — |
| RS886037870 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 16 with or without polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 16 with or without polydactyly |