Gene: MKS1

Alternate names for this Gene: BBS13|JBTS28|MES|MKS|POC12

Gene Summary: The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q22

Description of this Gene: MKS transition zone complex subunit 1

Type of Gene: protein-coding

rs137853105 in MKS1 gene and BARDET-BIEDL SYNDROME 13 PMID 18327255 2008 Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 17437276 2007 Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

PMID 27570071 2016 Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

rs111786708 in MKS1 gene and Chronic Obstructive Airway Disease PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs185405908 in MKS1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1114167302 in MKS1 gene and Familial aplasia of the vermis PMID 27377014 2016 MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 17935508 2007 A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

PMID 17437276 2007 Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 28497568 2017 Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

PMID 27570071 2016 Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

PMID 17185389 2007 The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

rs1555599412 in MKS1 gene and JOUBERT SYNDROME 28 PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 17437276 2007 Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

PMID 23351400 2012 Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 27570071 2016 Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

rs1555599412 in MKS1 gene and Meckel syndrome type 1 PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 17437276 2007 Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

PMID 27570071 2016 Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

rs386834043 in MKS1 gene and Meckel-Gruber syndrome PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 17935508 2007 A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

PMID 17437276 2007 Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 28497568 2017 Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

PMID 23736532 2013 Identification of deleterious synonymous variants in human genomes.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 27570071 2016 Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

PMID 17185389 2007 The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

rs111786708 in MKS1 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.