Gene: BBS1

Alternate names for this Gene: BBS2L2

Gene Summary: Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: Bardet-Biedl syndrome 1

Type of Gene: protein-coding

rs587777829 in BBS1 gene and Bardet-Biedl Syndrome PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 18327255 2008 Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 23432027 2014 Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

rs1057516449 in BBS1 gene and Bardet-Biedl syndrome 1 (disorder) PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 19797195 2010 Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 27659767 2017 Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

PMID 12524598 2003 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

PMID 12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 12567324 2003 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PMID 26261414 2015 Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

PMID 21520335 2011 U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

rs376894444 in BBS1 gene and Retinitis Pigmentosa PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.