Gene: VPS13B

Alternate names for this Gene: CHS1|COH1

Gene Summary: This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.2

Description of this Gene: vacuolar protein sorting 13 homolog B

Type of Gene: protein-coding

rs1788161 in VPS13B gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1487022 in VPS13B gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs1487022 in VPS13B gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs1057516633 in VPS13B gene and Cohen syndrome PMID 20683995 2010 Cerebellar hypoplasia and Cohen syndrome: a confirmed association.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 15154116 2004 Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

PMID 15211651 2004 Cohen syndrome in the Ohio Amish.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 15173253 2004 Broader geographical spectrum of Cohen syndrome due to COH1 mutations.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 17786118 2007 High prevalence of Cohen syndrome among Irish travellers.

PMID 20461111 2010 High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

PMID 23188044 2013 Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

PMID 16917849 2006 Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

PMID 21865173 2011 Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.

PMID 21659346 2011 Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 22855652 2012 Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

PMID 27533158 2016 Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.

PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 23352163 2013 Using whole-exome sequencing to identify inherited causes of autism.

PMID 24334764 2014 Cohen syndrome is associated with major glycosylation defects.

PMID 15691367 2005 COH1 analysis and linkage study in two Japanese families with Cohen syndrome.

PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 25271213 2014 Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

rs13260338 in VPS13B gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs120074152 in VPS13B gene and Dysmorphic features PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 15498460 2004 Analysis of the human VPS13 gene family.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 11477603 2001 Cohen syndrome: essential features, natural history, and heterogeneity.

rs921313 in VPS13B gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs777593389 in VPS13B gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs959695 in VPS13B gene and Hippocampal atrophy PMID 22745009 2012 Multiple loci influencing hippocampal degeneration identified by genome scan.

rs6981691 in VPS13B gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs777593389 in VPS13B gene and Microcephaly (physical finding) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1554884733 in VPS13B gene and Movement Disorders PMID 9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 11477603 2001 Cohen syndrome: essential features, natural history, and heterogeneity.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 15498460 2004 Analysis of the human VPS13 gene family.

PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.

PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

rs120074152 in VPS13B gene and Muscle hypotonia PMID 15498460 2004 Analysis of the human VPS13 gene family.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 11477603 2001 Cohen syndrome: essential features, natural history, and heterogeneity.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

PMID 9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

rs4734427 in VPS13B gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6981691 in VPS13B gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7827408 in VPS13B gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs113306726 in VPS13B gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.