Gene: CRB1

Alternate names for this Gene: CRB1-A|CRB1-B|CRB1-C|LCA8|RP12

Gene Summary: This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: crumbs cell polarity complex component 1

Type of Gene: protein-coding

rs6689858 in CRB1 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs6689858 in CRB1 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs6689858 in CRB1 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs6689858 in CRB1 gene and Ankylosing spondylitis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs2786098 in CRB1 gene and Asthma PMID 20032318 2010 We observed replication of the association of asthma with SNP rs2786098 in the independent series of persons of European ancestry (combined P=9.3x10(-11)).

rs6689858 in CRB1 gene and Autoimmune Diseases PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs6689858 in CRB1 gene and Autoimmune thyroiditis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs398124615 in CRB1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 28181551 2017 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

PMID 28819299 2017 The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

PMID 23379534 2013 High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

PMID 27258436 2016 Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

rs1009188 in CRB1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs6689858 in CRB1 gene and Celiac Disease PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs6689858 in CRB1 gene and Common Variable Immunodeficiency PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs6689858 in CRB1 gene and Crohn Disease PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs6689858 in CRB1 gene and Diabetes Mellitus, Insulin-Dependent PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs2786107 in CRB1 gene and Hemopexin measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs6689858 in CRB1 gene and Juvenile arthritis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs114342808 in CRB1 gene and LEBER CONGENITAL AMAUROSIS 8 PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.

PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

PMID 30576320 2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PMID 20956273 2011 Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

PMID 11389483 2001 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

PMID 12843338 2003 Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

PMID 15459956 2004 CRB1 mutation spectrum in inherited retinal dystrophies.

PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 16205573 2005 Evaluation of genotype-phenotype associations in leber congenital amaurosis.

PMID 24715753 2014 Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.

PMID 15691574 2005 Clinical phenotypes in carriers of Leber congenital amaurosis mutations.

PMID 16936081 2006 CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.

PMID 18055821 2007 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

PMID 10508521 1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

PMID 20108431 2010 Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

PMID 12573663 2003 Mutation screening of Pakistani families with congenital eye disorders.

PMID 23449718 2013 Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

PMID 17128490 2006 Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.

PMID 12700176 2003 Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.

PMID 28819299 2017 The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

PMID 11231775 2001 Mutations in the CRB1 gene cause Leber congenital amaurosis.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 17438615 2007 Gene symbol: CRB1.

PMID 12567265 2002 A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.

PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

PMID 25133751 2014 Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

PMID 26147992 2015 Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 19140180 2009 Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

PMID 22065545 2012 CRB1 mutations in inherited retinal dystrophies.

PMID 16543197 2006 A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

PMID 18055816 2007 Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.

PMID 24512366 2015 Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.

PMID 23379534 2013 High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

PMID 27113771 2016 Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

PMID 19401883 2009 Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

PMID 20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

rs62645752 in CRB1 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs6689858 in CRB1 gene and Lupus Erythematosus, Systemic PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs76169311 in CRB1 gene and Luteinizing hormone measurement PMID 26284813 2015 Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations.

rs1201356843 in CRB1 gene and Macular dystrophy PMID 29391521 2018 A clinical and molecular characterisation of CRB1-associated maculopathy.

PMID 17297678 2006 Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510.

PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

rs2759663 in CRB1 gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

rs2759663 in CRB1 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs137853138 in CRB1 gene and Pigmented Paravenous Chorioretinal Atrophy PMID 15623792 2005 A novel, dominant Val162Met mutation within the fourth EGF-like domain of CRB1 cosegregates with the PPCRA phenotype.

rs76169311 in CRB1 gene and Polycystic Ovary Syndrome PMID 26284813 2015 Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations.

rs6689858 in CRB1 gene and Psoriasis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs114342808 in CRB1 gene and RETINITIS PIGMENTOSA 12 (disorder) PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.

PMID 11389483 2001 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

PMID 22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 20956273 2011 Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

PMID 15459956 2004 CRB1 mutation spectrum in inherited retinal dystrophies.

PMID 19140180 2009 Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

PMID 21987686 2011 Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.

PMID 22128245 2011 Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

PMID 19956407 2009 Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 28819299 2017 The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

PMID 12843338 2003 Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

PMID 20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

PMID 22065545 2012 CRB1 mutations in inherited retinal dystrophies.

PMID 11559858 2001 CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.

PMID 12573663 2003 Mutation screening of Pakistani families with congenital eye disorders.

PMID 10508521 1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

PMID 24715753 2014 Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.

PMID 23449718 2013 Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

PMID 11231775 2001 Mutations in the CRB1 gene cause Leber congenital amaurosis.

PMID 26147992 2015 Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

PMID 25133751 2014 Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 16543197 2006 A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

PMID 19401883 2009 Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

PMID 23379534 2013 High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

PMID 18055816 2007 Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.

PMID 27113771 2016 Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

PMID 24512366 2015 Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.

rs137853137 in CRB1 gene and Retinal Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

PMID 18055820 2007 An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

PMID 10508521 1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

rs115352681 in CRB1 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

rs12042924 in CRB1 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs6689858 in CRB1 gene and Ulcerative Colitis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs10922187 in CRB1 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.