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 |
|---|---|---|---|
| RS2148479160 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2148505406 | 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 |
| RS2148546998 | 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 |
| RS2148559396 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS2465806368 | 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 |
| RS2465831120 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465833474 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465853379 | Health Risk | Likely pathogenic | IFT172-related disorder, IFT172-related disorder |
| RS2465979379 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS2466025777 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2466031050 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS752257485 | 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 |
| RS757253624 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS759612790 | 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 |
| RS761504464 | 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 |
| RS762958757 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS774548930 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS780210480 | 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 |
| RS781527567 | Health Risk | Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1183354903 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1213456960 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1250676888 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1318391650 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1357839545 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1375216897 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS144450109 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS1444591972 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1478841179 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS149614625 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinitis pigmentosa |
| RS1553329745 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1558404443 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1572740187 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1664975368 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1665095139 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1665288663 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1667637536 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1668686361 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2148467030 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2148476381 | Health Risk | Pathogenic | Bardet-Biedl syndrome 20, Bardet-Biedl syndrome 20 |
| RS2148477695 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2148485970 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2148486874 | Health Risk | Pathogenic | — |
| RS2148487077 | Health Risk | Pathogenic | — |
| RS2148507566 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2148542989 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2148544061 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465802780 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465805898 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465811314 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2465835863 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |