KIAA0753 Chromosome 17
KIAA0753
Upload your DNA to see your personal genotypes for variants in KIAA0753.
What This Gene Does
This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]
Associated Conditions (7)
Inborn genetic diseases
Joubert syndrome
Jeune thoracic dystrophy
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV
Joubert syndrome 38
KIAA0753-related disorder
Key Variants
RS112740973
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS189105609
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199986970
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201648021
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371289252
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376555002
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377033831
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS550649513
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS746710591
Conflicting classifications of pathogenicity
Health Risk
RS752659088
Conflicting classifications of pathogenicity
Joubert syndrome, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 21 without polydactyly
Health Risk
RS753545653
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS763752752
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112740973 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS189105609 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199986970 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201648021 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371289252 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376555002 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377033831 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS550649513 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746710591 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752659088 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 21 without polydactyly |
| RS753545653 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763752752 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770791666 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886038201 | Health Risk | Conflicting classifications of pathogenicity | Orofaciodigital syndrome XV, Joubert syndrome 38, Orofaciodigital syndrome XV |
| RS1342935033 | Health Risk | Likely pathogenic | — |
| RS1969484465 | Health Risk | Likely pathogenic | — |
| RS2544315665 | Health Risk | Likely pathogenic | — |
| RS2544389796 | Health Risk | Likely pathogenic | — |
| RS2544495371 | Health Risk | Likely pathogenic | — |
| RS750740421 | Health Risk | Likely pathogenic | Joubert syndrome 38, Joubert syndrome 38 |
| RS765061108 | Health Risk | Likely pathogenic | — |
| RS771455309 | Health Risk | Likely pathogenic | — |
| RS1312865574 | Health Risk | Pathogenic | Joubert syndrome 38, Joubert syndrome 38 |
| RS1349477941 | Health Risk | Pathogenic | — |
| RS1555531363 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 21 without polydactyly, Joubert syndrome, Jeune thoracic dystrophy |
| RS1970256904 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 21 without polydactyly, Short-rib thoracic dysplasia 21 without polydactyly |
| RS1971820160 | Health Risk | Pathogenic | — |
| RS2150895254 | Health Risk | Pathogenic | Joubert syndrome 38, Joubert syndrome 38 |
| RS2544388437 | Health Risk | Pathogenic | — |
| RS2544389456 | Health Risk | Pathogenic | — |
| RS2544409249 | Health Risk | Pathogenic | — |
| RS2544410051 | Health Risk | Pathogenic | — |
| RS761257178 | Health Risk | Pathogenic | — |
| RS762771340 | Health Risk | Pathogenic | Joubert syndrome, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 21 without polydactyly |
| RS770256450 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 21 without polydactyly, Short-rib thoracic dysplasia 21 without polydactyly |
| RS773280909 | Health Risk | Pathogenic | — |
| RS778471926 | Health Risk | Pathogenic | — |
| RS780010794 | Health Risk | Pathogenic | — |
| RS886038200 | Health Risk | Pathogenic | Orofaciodigital syndrome XV, Joubert syndrome 38, Orofaciodigital syndrome XV |
| RS370840009 | Health Risk | Pathogenic/Likely pathogenic | Orofaciodigital syndrome XV, KIAA0753-related disorder, Short-rib thoracic dysplasia 21 without polydactyly |
| RS746068882 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 21 without polydactyly |
| RS766831438 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 38, Joubert syndrome 38 |
| RS774799042 | Health Risk | Pathogenic/Likely pathogenic | Orofaciodigital syndrome XV, Short-rib thoracic dysplasia 21 without polydactyly, Orofaciodigital syndrome XV |
| RS774903749 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Orofaciodigital syndrome XV, Short-rib thoracic dysplasia 21 without polydactyly |
| RS868639468 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |