Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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BBS8 gene

The TTC8 gene is responsible for autosomal recessive Bardet-Biedl syndrome 8.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10 days
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 08
TTC8

References:

1.

Ansley SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

external link
2.

Stoetzel C et al. (2006) BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

external link
3.

Kubo A et al. (1999) Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis.

external link
4.

NCBI article

NCBI 123016 external link
5.

OMIM.ORG article

Omim 608132 external link
6.

Orphanet article

Orphanet ID 120323 external link
7.

Wikipedia article

Wikipedia EN (TTC8) external link
Update: Aug. 14, 2020
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