INTU Chromosome 4
Inturned planar cell polarity protein
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What This Gene Does
Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in several cellular components, including ciliary basal body; cytosol; and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
"PDZ domain containing|Ciliogenesis and planar polarity effector complex subunits"
Locus Type
gene with protein product
Location
4q28.1
Ensembl
ENSG00000164066
Associated Conditions (11)
Jeune thoracic dystrophy
Inborn genetic diseases
INTU-related disorder
Nephronophthisis
Growth delay
Short-rib thoracic dysplasia 7/20 with polydactyly
digenic
Short-rib thoracic dysplasia 20 with polydactyly
Short rib-polydactyly syndrome
Orofaciodigital syndrome 17
Mohr syndrome
Key Variants
RS1227833863
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Jeune thoracic dystrophy
Health Risk
RS140878220
Conflicting classifications of pathogenicity
Inborn genetic diseases, INTU-related disorder, Inborn genetic diseases
Health Risk
RS143158055
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150681845
Conflicting classifications of pathogenicity
Nephronophthisis, Growth delay, INTU-related disorder
Health Risk
RS373900644
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic, Short-rib thoracic dysplasia 20 with polydactyly
Health Risk
RS533761290
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779523169
Conflicting classifications of pathogenicity
INTU-related disorder, INTU-related disorder
Health Risk
RS1037828930
Likely pathogenic
Short-rib thoracic dysplasia 20 with polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 20 with polydactyly
Health Risk
RS1360128571
Likely pathogenic
Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 20 with polydactyly, Short rib-polydactyly syndrome
Health Risk
RS1729889650
Likely pathogenic
Short-rib thoracic dysplasia 20 with polydactyly, Orofaciodigital syndrome 17, Short-rib thoracic dysplasia 20 with polydactyly
Health Risk
RS2148734459
Pathogenic
Short-rib thoracic dysplasia 20 with polydactyly, Orofaciodigital syndrome 17, Short-rib thoracic dysplasia 20 with polydactyly
Health Risk
RS2530892886
Pathogenic
Orofaciodigital syndrome 17, Orofaciodigital syndrome 17
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1227833863 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS140878220 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, INTU-related disorder, Inborn genetic diseases |
| RS143158055 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150681845 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Growth delay, INTU-related disorder |
| RS373900644 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 7/20 with polydactyly, digenic, Short-rib thoracic dysplasia 20 with polydactyly |
| RS533761290 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779523169 | Health Risk | Conflicting classifications of pathogenicity | INTU-related disorder, INTU-related disorder |
| RS1037828930 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 20 with polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 20 with polydactyly |
| RS1360128571 | Health Risk | Likely pathogenic | Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 20 with polydactyly, Short rib-polydactyly syndrome |
| RS1729889650 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 20 with polydactyly, Orofaciodigital syndrome 17, Short-rib thoracic dysplasia 20 with polydactyly |
| RS2148734459 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 20 with polydactyly, Orofaciodigital syndrome 17, Short-rib thoracic dysplasia 20 with polydactyly |
| RS2530892886 | Health Risk | Pathogenic | Orofaciodigital syndrome 17, Orofaciodigital syndrome 17 |
| RS1553970289 | Health Risk | Pathogenic/Likely pathogenic | Orofaciodigital syndrome 17, Mohr syndrome, Orofaciodigital syndrome 17 |