IFT122 Chromosome 3
Intraflagellar transport 122
Upload your DNA to see your personal genotypes for variants in IFT122.
What This Gene Does
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"WD repeat domain containing|IFT-A complex"
Locus Type
gene with protein product
Location
3q21.3-q22.1
Ensembl
ENSG00000163913
Associated Conditions (8)
Cranioectodermal dysplasia 1
Inborn genetic diseases
Connective tissue disorder
Uveal melanoma
IFT122-related disorder
Sarcoma
Rod-cone dystrophy
Cranioectodermal dysplasia
Key Variants
RS1335391766
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
Health Risk
RS138223055
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Inborn genetic diseases, Cranioectodermal dysplasia 1
Health Risk
RS139008392
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
Health Risk
RS141626835
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Connective tissue disorder, Cranioectodermal dysplasia 1
Health Risk
RS141889207
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
Health Risk
RS144140226
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
Health Risk
RS144727222
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
Health Risk
RS146778076
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
Health Risk
RS146818399
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Inborn genetic diseases, Cranioectodermal dysplasia 1
Health Risk
RS148626512
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Inborn genetic diseases, Cranioectodermal dysplasia 1
Health Risk
RS150055466
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
Health Risk
RS181318594
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
Health Risk
All Variants (98)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1559869525 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2074912574 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2077955754 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2084588345 | Health Risk | Likely pathogenic | Rod-cone dystrophy, Rod-cone dystrophy |
| RS2108101855 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2108328020 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS267607192 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS372355939 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS372483083 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS786205566 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS1039467525 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS1299632365 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS1377926916 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS1559941008 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2076139894 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2077995074 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2081339145 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2083230922 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2108311256 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2108740086 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2531375175 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2531429983 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2531458645 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2532525678 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2532710574 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2532967754 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2532968237 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS267607191 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS267607193 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS369346055 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS373836204 | Health Risk | Pathogenic | — |
| RS397515567 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS746129224 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS763755540 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS764222986 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS786205567 | Health Risk | Pathogenic | Cranioectodermal dysplasia, Cranioectodermal dysplasia 1, Cranioectodermal dysplasia |
| RS886041421 | Health Risk | Pathogenic | — |
| RS886042132 | Health Risk | Pathogenic | — |
| RS951629848 | Health Risk | Pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS1185183557 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS1300189424 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS138329739 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 1, IFT122-related disorder, Cranioectodermal dysplasia 1 |
| RS1559868433 | Health Risk | Pathogenic/Likely pathogenic | IFT122-related disorder, Cranioectodermal dysplasia 1, IFT122-related disorder |
| RS2531744619 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS755005244 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS770590297 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS776099605 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS905675504 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |