Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BBS11 gene

The TRIM32 gene is responsible for autosomal recessive Bardet-Biedl syndrome 11.

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 11
TRIM32

References:

1.

Chiang AP et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

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2.

Müller-Felber W et al. (1999) Phenotypic variability in two brothers with sarcotubular myopathy.

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3.

OMIM.ORG article

Omim 602290 [^]
4.

Orphanet article

Orphanet ID 120273 [^]
5.

NCBI article

NCBI 22954 [^]
6.

Wikipedia article

Wikipedia EN (TRIM32) [^]
Update: April 29, 2019