Gene: EYS

Alternate names for this Gene: C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1

Gene Summary: The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q12

Description of this Gene: eyes shut homolog

Type of Gene: protein-coding

rs12211518 in EYS gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs80158983 in EYS gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs16896391 in EYS gene and Duodenal Ulcer PMID 22387998 2012 A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population.

rs199640474 in EYS gene and Forced expiratory volume function PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

rs6900114 in EYS gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs6900114 in EYS gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs398123575 in EYS gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs181169439 in EYS gene and Retinitis Pigmentosa PMID 22164218 2011 Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

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

PMID 20537394 2010 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

PMID 25268133 2014 Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

PMID 21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

PMID 18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 25491159 2015 Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

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

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.

rs142450703 in EYS gene and Retinitis Pigmentosa 25 PMID 21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

PMID 20696082 2010 Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

PMID 20333770 2010 EYS is a major gene for rod-cone dystrophies in France.

PMID 18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

PMID 18836446 2008 EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

PMID 28704921 2017 EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 26787102 2016 Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.

PMID 25491159 2015 Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

PMID 21217109 2011 High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

rs12211518 in EYS gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs6903570 in EYS gene and Schizophrenia PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

rs80158983 in EYS gene and Systolic Pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs655613 in EYS gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.