Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

BBS3 gene

The ARL6 gene is responsible for autosomal recessive Bardet-Biedl syndrome 3. In Bardet-Biedl syndrome 1, mutation in this gene can further modify the phenotype.

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 03
ARL6
Bardet-Biedl syndrome 01
ARL6
BBS1
CCDC28B
TMEM67

References:

1.

Sheffield VC et al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

external link
2.

Orphanet article

Orphanet ID 121421 external link
3.

NCBI article

NCBI 84100 external link
4.

OMIM.ORG article

Omim 608845 external link
5.

Wikipedia article

Wikipedia EN (ARL6) external link
Update: Aug. 14, 2020
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