IFT74 Chromosome 9
Intraflagellar transport 74
Upload your DNA to see your personal genotypes for variants in IFT74.
What This Gene Does
This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
IFT-B1 complex
Locus Type
gene with protein product
Location
9p21.2
Ensembl
ENSG00000096872
Associated Conditions (10)
IFT74-related disorder
Optic atrophy
Inborn genetic diseases
Bardet-Biedl syndrome 22
Acute myeloid leukemia
Joubert syndrome 40
Jeune thoracic dystrophy
Multiple Morphological Anomalies of Sperm Flagella (MMAF)
Spermatogenic failure 58
Bardet-Biedl syndrome
Key Variants
RS144847384
Conflicting classifications of pathogenicity
IFT74-related disorder, Optic atrophy, IFT74-related disorder
Health Risk
RS191860894
Conflicting classifications of pathogenicity
IFT74-related disorder, IFT74-related disorder
Health Risk
RS370238286
Conflicting classifications of pathogenicity
Inborn genetic diseases, IFT74-related disorder, Inborn genetic diseases
Health Risk
RS62542664
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 22, Inborn genetic diseases, IFT74-related disorder
Health Risk
RS1240407435
Likely pathogenic
Health Risk
RS1334193252
Likely pathogenic
IFT74-related disorder, IFT74-related disorder
Health Risk
RS1334343532
Likely pathogenic
Health Risk
RS201953338
Likely pathogenic
IFT74-related disorder, Acute myeloid leukemia, IFT74-related disorder
Health Risk
RS2489325501
Likely pathogenic
Health Risk
RS2489422392
Likely pathogenic
Health Risk
RS2489493326
Likely pathogenic
Health Risk
RS2489681238
Likely pathogenic
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144847384 | Health Risk | Conflicting classifications of pathogenicity | IFT74-related disorder, Optic atrophy, IFT74-related disorder |
| RS191860894 | Health Risk | Conflicting classifications of pathogenicity | IFT74-related disorder, IFT74-related disorder |
| RS370238286 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, IFT74-related disorder, Inborn genetic diseases |
| RS62542664 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 22, Inborn genetic diseases, IFT74-related disorder |
| RS1240407435 | Health Risk | Likely pathogenic | — |
| RS1334193252 | Health Risk | Likely pathogenic | IFT74-related disorder, IFT74-related disorder |
| RS1334343532 | Health Risk | Likely pathogenic | — |
| RS201953338 | Health Risk | Likely pathogenic | IFT74-related disorder, Acute myeloid leukemia, IFT74-related disorder |
| RS2489325501 | Health Risk | Likely pathogenic | — |
| RS2489422392 | Health Risk | Likely pathogenic | — |
| RS2489493326 | Health Risk | Likely pathogenic | — |
| RS2489681238 | Health Risk | Likely pathogenic | — |
| RS751583919 | Health Risk | Likely pathogenic | Joubert syndrome 40, Joubert syndrome 40 |
| RS759662469 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Inborn genetic diseases, Jeune thoracic dystrophy |
| RS762790577 | Health Risk | Likely pathogenic | — |
| RS766986213 | Health Risk | Likely pathogenic | IFT74-related disorder, IFT74-related disorder |
| RS1350359379 | Health Risk | Pathogenic | IFT74-related disorder, IFT74-related disorder |
| RS1370374325 | Health Risk | Pathogenic | — |
| RS1819734528 | Health Risk | Pathogenic | — |
| RS1828923734 | Health Risk | Pathogenic | — |
| RS200176242 | Health Risk | Pathogenic | — |
| RS200556379 | Health Risk | Pathogenic | IFT74-related disorder, IFT74-related disorder |
| RS2131480409 | Health Risk | Pathogenic | Joubert syndrome 40, Joubert syndrome 40 |
| RS2131525635 | Health Risk | Pathogenic | — |
| RS2131525662 | Health Risk | Pathogenic | Multiple Morphological Anomalies of Sperm Flagella (MMAF), Spermatogenic failure 58, Multiple Morphological Anomalies of Sperm Flagella (MMAF) |
| RS2131540908 | Health Risk | Pathogenic | Joubert syndrome 40, Joubert syndrome 40 |
| RS2131541114 | Health Risk | Pathogenic | Bardet-Biedl syndrome 22, Bardet-Biedl syndrome 22 |
| RS2131642498 | Health Risk | Pathogenic | Joubert syndrome 40, Joubert syndrome 40 |
| RS2131684281 | Health Risk | Pathogenic | — |
| RS2489278121 | Health Risk | Pathogenic | — |
| RS2489335458 | Health Risk | Pathogenic | — |
| RS2489423803 | Health Risk | Pathogenic | — |
| RS2489720722 | Health Risk | Pathogenic | — |
| RS372505229 | Health Risk | Pathogenic | — |
| RS377639405 | Health Risk | Pathogenic | IFT74-related disorder, IFT74-related disorder |
| RS752539924 | Health Risk | Pathogenic | — |
| RS754711653 | Health Risk | Pathogenic | — |
| RS757141641 | Health Risk | Pathogenic | — |
| RS764979540 | Health Risk | Pathogenic | — |
| RS765124462 | Health Risk | Pathogenic | — |
| RS769696601 | Health Risk | Pathogenic | — |
| RS775169386 | Health Risk | Pathogenic | — |
| RS890375954 | Health Risk | Pathogenic | — |
| RS890822485 | Health Risk | Pathogenic | — |
| RS1056125920 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 40, Joubert syndrome 40 |
| RS1391036863 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 40, IFT74-related disorder, Bardet-Biedl syndrome 22 |
| RS150219690 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 40, Inborn genetic diseases, IFT74-related disorder |
| RS200699377 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 22, IFT74-related disorder, Bardet-Biedl syndrome 22 |