IFT43 Chromosome 14
Intraflagellar transport 43
Upload your DNA to see your personal genotypes for variants in IFT43.
What This Gene Does
This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
IFT-A complex
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119650
Associated Conditions (8)
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3
Connective tissue disorder
Uterine carcinosarcoma
Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Malignant tumor of urinary bladder
Key Variants
RS140127543
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3
Health Risk
RS140366557
Conflicting classifications of pathogenicity
Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly
Health Risk
RS141114765
Conflicting classifications of pathogenicity
Retinitis pigmentosa 81, Connective tissue disorder, Short-rib thoracic dysplasia 18 with polydactyly
Health Risk
RS144776609
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Jeune thoracic dystrophy
Health Risk
RS150373788
Conflicting classifications of pathogenicity
Health Risk
RS1566740420
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3
Health Risk
RS189153179
Conflicting classifications of pathogenicity
Health Risk
RS201692401
Conflicting classifications of pathogenicity
Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly
Health Risk
RS201966792
Conflicting classifications of pathogenicity
Connective tissue disorder, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81
Health Risk
RS375132671
Conflicting classifications of pathogenicity
Health Risk
RS557807920
Conflicting classifications of pathogenicity
Health Risk
RS563086463
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140127543 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3 |
| RS140366557 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly |
| RS141114765 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 81, Connective tissue disorder, Short-rib thoracic dysplasia 18 with polydactyly |
| RS144776609 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS150373788 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1566740420 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3 |
| RS189153179 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201692401 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly |
| RS201966792 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81 |
| RS375132671 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS557807920 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS563086463 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3 |
| RS750135817 | Health Risk | Conflicting classifications of pathogenicity | Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81 |
| RS752528550 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780404339 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Short-rib thoracic dysplasia 18 with polydactyly, Jeune thoracic dystrophy |
| RS1009557453 | Health Risk | Likely pathogenic | — |
| RS1555369050 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 18 with polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 18 with polydactyly |
| RS2037525325 | Health Risk | Likely pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2140099474 | Health Risk | Likely pathogenic | — |
| RS2140102081 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 18 with polydactyly, Short-rib thoracic dysplasia 18 with polydactyly |
| RS748576209 | Health Risk | Likely pathogenic | — |
| RS751122392 | Health Risk | Likely pathogenic | — |
| RS771473725 | Health Risk | Likely pathogenic | — |
| RS777112610 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81 |
| RS1242125183 | Health Risk | Pathogenic | — |
| RS2035585345 | Health Risk | Pathogenic | — |
| RS2139957076 | Health Risk | Pathogenic | — |
| RS2140090204 | Health Risk | Pathogenic | — |
| RS2503205188 | Health Risk | Pathogenic | — |
| RS387907107 | Health Risk | Pathogenic | Cranioectodermal dysplasia 3, Cranioectodermal dysplasia 3 |
| RS748454643 | Health Risk | Pathogenic | — |
| RS751183646 | Health Risk | Pathogenic | — |
| RS769724508 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 18 with polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 18 with polydactyly |
| RS201794999 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3 |