IFT27 Chromosome 22
Intraflagellar transport 27
Upload your DNA to see your personal genotypes for variants in IFT27.
What This Gene Does
This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
"RAB like GTPases|IFT-B1 complex"
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100360
Associated Conditions (8)
Inborn genetic diseases
IFT27-related disorder
Optic atrophy
Retinal dystrophy
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome
Jeune thoracic dystrophy
Hepatocellular carcinoma
Key Variants
RS118095726
Conflicting classifications of pathogenicity
Inborn genetic diseases, IFT27-related disorder, Optic atrophy
Health Risk
RS141617868
Conflicting classifications of pathogenicity
Inborn genetic diseases, IFT27-related disorder, Inborn genetic diseases
Health Risk
RS142815512
Conflicting classifications of pathogenicity
Inborn genetic diseases, IFT27-related disorder, Inborn genetic diseases
Health Risk
RS143443220
Conflicting classifications of pathogenicity
IFT27-related disorder, Retinal dystrophy, IFT27-related disorder
Health Risk
RS150387982
Conflicting classifications of pathogenicity
Inborn genetic diseases, IFT27-related disorder, Inborn genetic diseases
Health Risk
RS376189927
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 19, Inborn genetic diseases, Bardet-Biedl syndrome 19
Health Risk
RS576803886
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, IFT27-related disorder, Bardet-Biedl syndrome
Health Risk
RS753938507
Conflicting classifications of pathogenicity
IFT27-related disorder, Inborn genetic diseases, IFT27-related disorder
Health Risk
RS759899864
Conflicting classifications of pathogenicity
IFT27-related disorder, Inborn genetic diseases, IFT27-related disorder
Health Risk
RS1159774355
Likely pathogenic
Jeune thoracic dystrophy, Jeune thoracic dystrophy
Health Risk
RS765920708
Likely pathogenic
Bardet-Biedl syndrome 19, Bardet-Biedl syndrome 19
Health Risk
RS1277838867
Pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118095726 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, IFT27-related disorder, Optic atrophy |
| RS141617868 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, IFT27-related disorder, Inborn genetic diseases |
| RS142815512 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, IFT27-related disorder, Inborn genetic diseases |
| RS143443220 | Health Risk | Conflicting classifications of pathogenicity | IFT27-related disorder, Retinal dystrophy, IFT27-related disorder |
| RS150387982 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, IFT27-related disorder, Inborn genetic diseases |
| RS376189927 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 19, Inborn genetic diseases, Bardet-Biedl syndrome 19 |
| RS576803886 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, IFT27-related disorder, Bardet-Biedl syndrome |
| RS753938507 | Health Risk | Conflicting classifications of pathogenicity | IFT27-related disorder, Inborn genetic diseases, IFT27-related disorder |
| RS759899864 | Health Risk | Conflicting classifications of pathogenicity | IFT27-related disorder, Inborn genetic diseases, IFT27-related disorder |
| RS1159774355 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS765920708 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 19, Bardet-Biedl syndrome 19 |
| RS1277838867 | Health Risk | Pathogenic | — |
| RS1297608441 | Health Risk | Pathogenic | — |
| RS145338298 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1569077441 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 19, Bardet-Biedl syndrome |
| RS1938243794 | Health Risk | Pathogenic | — |
| RS1938279494 | Health Risk | Pathogenic | — |
| RS1938292111 | Health Risk | Pathogenic | Bardet-Biedl syndrome 19, Bardet-Biedl syndrome 19 |
| RS2517829457 | Health Risk | Pathogenic | — |
| RS374999621 | Health Risk | Pathogenic | — |
| RS587777546 | Health Risk | Pathogenic | Bardet-Biedl syndrome 19, IFT27-related disorder, Bardet-Biedl syndrome 19 |
| RS780659194 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 19, IFT27-related disorder |