IFT172 Chromosome 2
Intraflagellar transport 172
Upload your DNA to see your personal genotypes for variants in IFT172.
What This Gene Does
This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"WD repeat domain containing|IFT-B2 complex"
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000138002
Associated Conditions (21)
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder
Retinal dystrophy
Inborn genetic diseases
Optic atrophy
Cervical cancer
Familial cancer of breast
Asphyxiating thoracic dystrophy 1
Intellectual disability
Short-rib thoracic dysplasia 10 without polydactyly
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Anophthalmia-microphthalmia syndrome
Bardet-Biedl syndrome
Retinitis pigmentosa
Short-rib thoracic dysplasia 10 with polydactyly
Joubert syndrome
+1 more conditions
Key Variants
RS1011923461
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20
Health Risk
RS115716101
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20
Health Risk
RS1238278691
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinal dystrophy
Health Risk
RS1259207198
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20
Health Risk
RS1270472738
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
Health Risk
RS1346517687
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinal dystrophy
Health Risk
RS137868356
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20
Health Risk
RS137906877
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Inborn genetic diseases
Health Risk
RS138511988
Conflicting classifications of pathogenicity
Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder
Health Risk
RS138604630
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder
Health Risk
RS139229844
Conflicting classifications of pathogenicity
Inborn genetic diseases, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
Health Risk
RS139560074
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder
Health Risk
All Variants (196)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375847990 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS377211687 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS377646246 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS529850410 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS529914770 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS540171862 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS543062539 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS557292146 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS558148933 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS560379580 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS560831644 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS568736482 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS571686284 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS61740250 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS61747068 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS745644146 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS745698076 | Health Risk | Conflicting classifications of pathogenicity | IFT172-related disorder, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS746340772 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS747544155 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS749766704 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS749934202 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS751486617 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Inborn genetic diseases |
| RS752069515 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS754880269 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS755926439 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Inborn genetic diseases |
| RS757464563 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS758674130 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS76076247 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Inborn genetic diseases |
| RS762645007 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS767901253 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS769575051 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS770733075 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS771104054 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Inborn genetic diseases |
| RS771534291 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS772012378 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS772983278 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS773491435 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS775776080 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS779152335 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS901644807 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinal dystrophy |
| RS1393522194 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1436511287 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS1553322497 | Health Risk | Likely pathogenic | — |
| RS1665487115 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1666303205 | Health Risk | Likely pathogenic | Inborn genetic diseases, Bardet-Biedl syndrome 20, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1668654133 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2148464837 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2148467424 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2148472644 | Health Risk | Likely pathogenic | IFT172-related disorder, IFT172-related disorder |
| RS2148477195 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |