IFT81 Chromosome 12
Intraflagellar transport 81
Upload your DNA to see your personal genotypes for variants in IFT81.
What This Gene Does
The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
IFT-B1 complex
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000122970
Associated Conditions (8)
Inborn genetic diseases
Short-rib thoracic dysplasia 19 with or without polydactyly
Short stature
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY
Jeune thoracic dystrophy
Retinal dystrophy
Key Variants
RS200265725
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375743897
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771085881
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1254806143
Likely pathogenic
Health Risk
RS1365439707
Likely pathogenic
Health Risk
RS1480641848
Likely pathogenic
Health Risk
RS576969206
Likely pathogenic
Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly
Health Risk
RS751150566
Likely pathogenic
Health Risk
RS761469100
Likely pathogenic
Short stature, Short stature
Health Risk
RS775681854
Likely pathogenic
Hepatocellular carcinoma, Hepatocellular carcinoma
Health Risk
RS1037434723
Pathogenic
Health Risk
RS1051497484
Pathogenic
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200265725 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375743897 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771085881 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1254806143 | Health Risk | Likely pathogenic | — |
| RS1365439707 | Health Risk | Likely pathogenic | — |
| RS1480641848 | Health Risk | Likely pathogenic | — |
| RS576969206 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly |
| RS751150566 | Health Risk | Likely pathogenic | — |
| RS761469100 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS775681854 | Health Risk | Likely pathogenic | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS1037434723 | Health Risk | Pathogenic | — |
| RS1051497484 | Health Risk | Pathogenic | — |
| RS1309471182 | Health Risk | Pathogenic | — |
| RS1361393564 | Health Risk | Pathogenic | — |
| RS1395766003 | Health Risk | Pathogenic | — |
| RS1463997351 | Health Risk | Pathogenic | — |
| RS1467642208 | Health Risk | Pathogenic | — |
| RS1895259806 | Health Risk | Pathogenic | — |
| RS1897771129 | Health Risk | Pathogenic | — |
| RS200079673 | Health Risk | Pathogenic | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS201791587 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly |
| RS2137588853 | Health Risk | Pathogenic | — |
| RS2499778482 | Health Risk | Pathogenic | — |
| RS2499921727 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly |
| RS2499922365 | Health Risk | Pathogenic | — |
| RS2500007212 | Health Risk | Pathogenic | — |
| RS369361064 | Health Risk | Pathogenic | — |
| RS372027811 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly |
| RS374954469 | Health Risk | Pathogenic | — |
| RS546724699 | Health Risk | Pathogenic | — |
| RS748009402 | Health Risk | Pathogenic | — |
| RS753162734 | Health Risk | Pathogenic | — |
| RS756551252 | Health Risk | Pathogenic | — |
| RS768016015 | Health Risk | Pathogenic | — |
| RS768675931 | Health Risk | Pathogenic | — |
| RS1868517084 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly |
| RS200335504 | Health Risk | Pathogenic/Likely pathogenic | SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY, Short-rib thoracic dysplasia 19 with or without polydactyly, Jeune thoracic dystrophy |
| RS751222088 | Health Risk | Pathogenic/Likely pathogenic | SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY, Short-rib thoracic dysplasia 19 with or without polydactyly, SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY |