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

Gene: ZDHHC24

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: zinc finger DHHC-type containing 24

Type of Gene: protein-coding

rs1057517332 in BBS1;ZDHHC24 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 15314642 2004 Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

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

PMID 12837689 2003 Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic 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 23143442 2012 In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant.

PMID 18766993 2008 Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.

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

PMID 18669544 2009 A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 22940089 2012 Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 22581970 2012 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 18032602 2007 A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

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

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 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 21517826 2011 Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

PMID 28224992 2017 Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

PMID 23143442 2012 BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

rs113624356 in BBS1;ZDHHC24 gene and Bardet-Biedl syndrome 1 (disorder) PMID 18032602 2007 A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

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

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

PMID 23565731 2013 Choroidal neovascularization in Bardet-Biedl syndrome.

PMID 22940089 2012 Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

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

PMID 23943788 2014 BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

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

PMID 23143442 2012 BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

PMID 22581970 2012 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

PMID 28143435 2017 Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

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

PMID 21517826 2011 Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

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

PMID 25170860 2014 Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

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

PMID 12920096 2003 Further support for digenic inheritance 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.

rs8432 in BBS1;ZDHHC24 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs113624356 in BBS1;ZDHHC24 gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

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

rs113624356 in BBS1;ZDHHC24 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

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

rs113624356 in BBS1;ZDHHC24 gene and Usher Syndrome PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.