Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 65250
MIM: 614571
HGNC: 25801
Ensembl: ENSG00000197603
Variants:
dbSNP: 65250
ClinVar: 65250
TCGA: ENSG00000197603
COSMIC: CPLANE1
RNA/Proteins
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35092359 | 2022 | Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome. | 5 |
| 35092359 | 2022 | Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome. | 5 |
| 33517281 | 2021 | Salivary CPLANE1 Levels as a Biomarker of Oral Squamous Cell Carcinoma. | 4 |
| 33822487 | 2021 | Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants. | 5 |
| 33517281 | 2021 | Salivary CPLANE1 Levels as a Biomarker of Oral Squamous Cell Carcinoma. | 4 |
| 33822487 | 2021 | Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants. | 5 |
| 32233090 | 2020 | Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome. | 5 |
| 32335874 | 2020 | [Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]. | 0 |
| 32233090 | 2020 | Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome. | 5 |
| 32335874 | 2020 | [Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]. | 0 |
| 31004438 | 2019 | Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. | 7 |
| 31004438 | 2019 | Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. | 7 |
| 29605658 | 2018 | Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. | 11 |
| 29605658 | 2018 | Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. | 11 |
| 28431631 | 2017 | Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. | 12 |
Citation
Dessen P
CPLANE1 (ciliogenesis and planar polarity effector 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/80380/cplane1-(ciliogenesis-and-planar-polarity-effector-1)
