KIF7 Chromosome 15
Kinesin family member 7
Upload your DNA to see your personal genotypes for variants in KIF7.
What This Gene Does
This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000166813
Associated Conditions (16)
Acrocallosal syndrome
Multiple epiphyseal dysplasia
Al-Gazali type
Hydrolethalus syndrome 2
Nephronophthisis
Intellectual disability
Inborn genetic diseases
KIF7-related disorder
Familial cancer of breast
Hydrolethalus syndrome
7 conditions
Male infertility due to gonadal dysgenesis or sperm disorder
Rare genetic intellectual disability
Joubert syndrome 12
JOUBERT SYNDROME 12/15
DIGENIC
Key Variants
RS113112856
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type
Health Risk
RS117123311
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type
Health Risk
RS1273641096
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type
Health Risk
RS138354681
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Nephronophthisis, Intellectual disability
Health Risk
RS138410949
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Intellectual disability, Acrocallosal syndrome
Health Risk
RS138764398
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Acrocallosal syndrome
Health Risk
RS138993311
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Inborn genetic diseases, Acrocallosal syndrome
Health Risk
RS140121479
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Acrocallosal syndrome
Health Risk
RS141028210
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Acrocallosal syndrome
Health Risk
RS141097070
Conflicting classifications of pathogenicity
Acrocallosal syndrome, KIF7-related disorder, Acrocallosal syndrome
Health Risk
RS141463861
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Inborn genetic diseases, Acrocallosal syndrome
Health Risk
RS141497185
Conflicting classifications of pathogenicity
Acrocallosal syndrome, Acrocallosal syndrome
Health Risk
All Variants (159)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS555659148 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS556031779 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type |
| RS55765051 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia |
| RS570856269 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS573998309 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS587780375 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Inborn genetic diseases, Acrocallosal syndrome |
| RS746429585 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS746943281 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type |
| RS749948143 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Inborn genetic diseases, Multiple epiphyseal dysplasia |
| RS755148549 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type |
| RS756117745 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS756368261 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, KIF7-related disorder, Hydrolethalus syndrome 2 |
| RS757264957 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Inborn genetic diseases, Acrocallosal syndrome |
| RS758361736 | Health Risk | Conflicting classifications of pathogenicity | 7 conditions, Acrocallosal syndrome, Male infertility due to gonadal dysgenesis or sperm disorder |
| RS761029778 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS761226001 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia |
| RS761796364 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS764965490 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Inborn genetic diseases, Multiple epiphyseal dysplasia |
| RS768030553 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Acrocallosal syndrome, Inborn genetic diseases |
| RS771583869 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type |
| RS773325406 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type |
| RS776233268 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS778389919 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS78199895 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS794727530 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS794727743 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS79532879 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051529 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051533 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, KIF7-related disorder, Acrocallosal syndrome |
| RS886051534 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051535 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051536 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051538 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS886192389 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Acrocallosal syndrome |
| RS949983017 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type |
| RS975756878 | Health Risk | Conflicting classifications of pathogenicity | Acrocallosal syndrome, KIF7-related disorder, Acrocallosal syndrome |
| RS1160753200 | Health Risk | Likely pathogenic | Acrocallosal syndrome, Acrocallosal syndrome |
| RS1424230161 | Health Risk | Likely pathogenic | Acrocallosal syndrome, Acrocallosal syndrome |
| RS1555423120 | Health Risk | Likely pathogenic | — |
| RS1555425036 | Health Risk | Likely pathogenic | Acrocallosal syndrome, Acrocallosal syndrome |
| RS1567057019 | Health Risk | Likely pathogenic | Acrocallosal syndrome, Acrocallosal syndrome |
| RS1567060070 | Health Risk | Likely pathogenic | — |
| RS1963937785 | Health Risk | Likely pathogenic | Acrocallosal syndrome, Acrocallosal syndrome |
| RS2141993907 | Health Risk | Likely pathogenic | — |
| RS2505419625 | Health Risk | Likely pathogenic | Acrocallosal syndrome, Acrocallosal syndrome |
| RS2505426700 | Health Risk | Likely pathogenic | Rare genetic intellectual disability, Rare genetic intellectual disability |
| RS2505434943 | Health Risk | Likely pathogenic | — |
| RS2505499561 | Health Risk | Likely pathogenic | KIF7-related disorder, KIF7-related disorder |
| RS2505502773 | Health Risk | Likely pathogenic | KIF7-related disorder, KIF7-related disorder |
| RS527766106 | Health Risk | Likely pathogenic | Acrocallosal syndrome, Acrocallosal syndrome |