IFT80 Chromosome 3
Intraflagellar transport 80
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What This Gene Does
The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"WD repeat domain containing|IFT-B2 complex"
Locus Type
gene with protein product
Location
3q25.33
Ensembl
ENSG00000068885
Associated Conditions (10)
Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy
Short-rib thoracic dysplasia 6 with or without polydactyly
IFT80-related disorder
Type IV short rib polydactyly syndrome
Connective tissue disorder
Inborn genetic diseases
Short-rib thoracic dysplasia 10 with or without polydactyly
Clear cell carcinoma of kidney
Familial cancer of breast
Key Variants
RS1057523840
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2
Health Risk
RS137853116
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
Health Risk
RS138004478
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS140202230
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Type IV short rib polydactyly syndrome, Asphyxiating thoracic dystrophy 2
Health Risk
RS142438830
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
Health Risk
RS143660757
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Connective tissue disorder
Health Risk
RS145679417
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
Health Risk
RS145776235
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
Health Risk
RS1714508262
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
Health Risk
RS184680258
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Connective tissue disorder, Inborn genetic diseases
Health Risk
RS199575501
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
Health Risk
RS201088893
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057523840 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2 |
| RS137853116 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS138004478 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS140202230 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Type IV short rib polydactyly syndrome, Asphyxiating thoracic dystrophy 2 |
| RS142438830 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS143660757 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Connective tissue disorder |
| RS145679417 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS145776235 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS1714508262 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS184680258 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Connective tissue disorder, Inborn genetic diseases |
| RS199575501 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS201088893 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS201820395 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Inborn genetic diseases |
| RS202145480 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Inborn genetic diseases |
| RS369114064 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS372419950 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Connective tissue disorder |
| RS375407595 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS375941259 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS527856744 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Connective tissue disorder |
| RS539267353 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Inborn genetic diseases, Jeune thoracic dystrophy |
| RS543233802 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Connective tissue disorder, Jeune thoracic dystrophy |
| RS551983792 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Connective tissue disorder |
| RS554335278 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Connective tissue disorder |
| RS557249203 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS557375681 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Short-rib thoracic dysplasia 10 with or without polydactyly, Jeune thoracic dystrophy |
| RS565364572 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS746236656 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS752574778 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS754398043 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Clear cell carcinoma of kidney |
| RS762163693 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS769891425 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Connective tissue disorder, Jeune thoracic dystrophy |
| RS774425025 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS780412409 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS886058131 | Health Risk | Conflicting classifications of pathogenicity | Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2 |
| RS1302753011 | Health Risk | Likely pathogenic | Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2 |
| RS1718069979 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1721846338 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy |
| RS2108240653 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2275152 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Familial cancer of breast, Jeune thoracic dystrophy |
| RS2473107231 | Health Risk | Likely pathogenic | Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2 |
| RS2473112324 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS431905497 | Health Risk | Likely pathogenic | Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2 |
| RS758820425 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS777519235 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS11707242 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1182330004 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1273119646 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1281270349 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1307708371 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS137853115 | Health Risk | Pathogenic | Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2 |