Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CPLANE1 gene is not yet fully characterized it is involved in autosomal recessive Joubert syndrome and orofaciodigital syndrome 6.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 
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| 2. |
Srour M et al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
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| 3. |
Damerla RR et al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
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| 4. |
Darmency-Stamboul V et al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
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| 5. |
Lopez E et al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI.
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| 6. |
Orphanet article Orphanet ID 299619
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| 7. |
NCBI article NCBI 65250
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| 8. |
OMIM.ORG article Omim 614571
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