The TMEM138 gene encodes a transmembraneous protein involved in cilia assambly. Mutations cause autosomal recessive Joubert syndrome 2.
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. |
Lee JH et al. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. |
2. |
Orphanet article Orphanet ID 292990 |
3. |
NCBI article NCBI 51524 |
4. |
OMIM.ORG article Omim 614459 |
5. |
Wikipedia article Wikipedia EN (TMEM138) |