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 |
|---|---|---|---|
| RS2465836142 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465864227 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465878777 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465878804 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465878992 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465984168 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465990477 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2466009165 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2466031344 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2466036018 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS587777078 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS587777081 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 without polydactyly |
| RS587777082 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 without polydactyly |
| RS587777083 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS587777084 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 without polydactyly |
| RS587777085 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS587777087 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS748244135 | Health Risk | Pathogenic | — |
| RS751177541 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS760097703 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS778898472 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS786205856 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Retinitis pigmentosa 71 |
| RS786205857 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Retinitis pigmentosa 71 |
| RS786205858 | Health Risk | Pathogenic | Retinitis pigmentosa 71, Retinitis pigmentosa 71 |
| RS983926349 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1309394469 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS1329856696 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS1366937730 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1369586774 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS139021548 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS1453282096 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS1455656088 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS1489674192 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS150246251 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS201862538 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS202024173 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS2148467517 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS2465998558 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS370540673 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS587777079 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Joubert syndrome, Bardet-Biedl syndrome 20 |
| RS587777086 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS750338419 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS761095604 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS777676427 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS786205855 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 20, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS999731005 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |