CPLANE1 Chromosome 5
Ciliogenesis and planar polarity effector complex subunit 1
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What This Gene Does
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
Gene Info
Gene Group
Ciliogenesis and planar polarity effector complex subunits
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000197603
Associated Conditions (38)
Joubert syndrome 1
Orofaciodigital syndrome type 6
Joubert syndrome 17
CPLANE1-related disorder
Inborn genetic diseases
Intellectual disability
Uterine corpus endometrial carcinoma
Thyroid cancer
nonmedullary
1
Thymoma
Acute myeloid leukemia
Clear cell carcinoma of kidney
Lung cancer
Sarcoma
See cases
Melanoma
Malignant tumor of esophagus
Colon adenocarcinoma
Gastric cancer
+18 more conditions
Key Variants
RS1019442092
Conflicting classifications of pathogenicity
Joubert syndrome 1, Joubert syndrome 1
Health Risk
RS1029215971
Conflicting classifications of pathogenicity
Orofaciodigital syndrome type 6, Joubert syndrome 17, Orofaciodigital syndrome type 6
Health Risk
RS1030945020
Conflicting classifications of pathogenicity
Orofaciodigital syndrome type 6, Joubert syndrome 17, Orofaciodigital syndrome type 6
Health Risk
RS1046843624
Conflicting classifications of pathogenicity
Orofaciodigital syndrome type 6, Joubert syndrome 17, Orofaciodigital syndrome type 6
Health Risk
RS111294855
Conflicting classifications of pathogenicity
Joubert syndrome 17, Joubert syndrome 17
Health Risk
RS1157919882
Conflicting classifications of pathogenicity
Joubert syndrome 17, Joubert syndrome 17
Health Risk
RS116237993
Conflicting classifications of pathogenicity
Health Risk
RS1287781089
Conflicting classifications of pathogenicity
Joubert syndrome 17, Orofaciodigital syndrome type 6, Joubert syndrome 17
Health Risk
RS138157520
Conflicting classifications of pathogenicity
Joubert syndrome 17, CPLANE1-related disorder, Joubert syndrome 17
Health Risk
RS138495618
Conflicting classifications of pathogenicity
Health Risk
RS138639220
Conflicting classifications of pathogenicity
Inborn genetic diseases, Orofaciodigital syndrome type 6, Joubert syndrome 17
Health Risk
RS139464953
Conflicting classifications of pathogenicity
Joubert syndrome 17, Joubert syndrome 17
Health Risk
All Variants (357)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS794727154 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 17, Joubert syndrome 17 |
| RS863225154 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 17, Joubert syndrome 17, Joubert syndrome 1 |
| RS863225159 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 17, Orofaciodigital syndrome type 6, Joubert syndrome 17 |
| RS863225166 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 17, Joubert syndrome 17 |
| RS886041688 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 17, Orofaciodigital syndrome type 6, Joubert syndrome 17 |
| RS886043786 | Health Risk | Pathogenic/Likely pathogenic | Orofaciodigital syndrome type 6, Joubert syndrome 17, CPLANE1-related disorder |
| RS891693382 | Health Risk | Pathogenic/Likely pathogenic | CPLANE1-related disorder, CPLANE1-related disorder |