Gene: RELN

Alternate names for this Gene: ETL7|LIS2|PRO1598|RL

Gene Summary: This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: reelin

Type of Gene: protein-coding

rs6965019 in RELN 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.

rs11496125 in RELN 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 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2299383 in RELN gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs1554404013 in RELN gene and Dysmorphic features PMID 10973257 2000 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

PMID 16958033 2007 The role of RELN in lissencephaly and neuropsychiatric disease.

PMID 11748497 2001 Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.

PMID 17431900 2007 Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25621899 2015 Whole-genome sequencing of quartet families with autism spectrum disorder.

PMID 26046367 2015 Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

PMID 17955477 2008 The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.

PMID 25648840 2015 RELN rare variants in myoclonus-dystonia.

rs201044262 in RELN gene and EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 PMID 26046367 2015 Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

rs114684479 in RELN gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs78623212 in RELN gene and Interleukin 18 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs3914132 in RELN gene and Otosclerosis PMID 19230858 2009 A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.

rs6965019 in RELN 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.

rs7341475 in RELN gene and Schizophrenia PMID 18282107 2008 Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women.

rs7341475 in RELN gene and Sjogren's Syndrome PMID 28076899 2017 Genome-Wide Association Analysis Reveals Genetic Heterogeneity of Sjögren's Syndrome According to Ancestry.

rs2041475 in RELN gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.