RELNReelin
Autism Reports / Total Reports
26 / 48Rare Variants / Common Variants
99 / 9Aliases
RELN, PRO1598, RLAssociated Syndromes
-Genetic Category
Rare Single Gene Mutation, Syndromic, Genetic Association, FunctionalChromosome Band
7q22.1Associated Disorders
DD/NDD, ID, EPSRelevance to Autism
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations, the Chinese Han population and Caucasian AGRE families (Persico et al., 2001; Serajee et al., 2006; Ashley-Koch et al., 2007; Li et al., 2008; Holt et al., 2010; Fu et al., 2013). However, several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations (Zhang et al., 2002; Bonora et al., 2003; Dutta et al., 2008; He et al., 2011). Variable expression data in ASD brain tissue has also been reported (Fatemi et al., 2005; Garbett et al., 2008). A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified RELN as a gene meeting high statistical significance with a 0.01 < FDR 0.05, meaning that this gene had a 95% chance of being a true autism gene (PMID 25363760). Two additional de novo LoF variants and a likely damaging missense variant in RELN were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889). Lammert et al., 2017 demonstrated that several ASD-associated missense variants in the RELN gene, including a de novo missense variant identified in a Simons Simplex Collection proband, resulted in reduced RELN protein secretion from transfected cells (PMID 28419454).
Molecular Function
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.
Reports related to RELN (48 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Highly Cited | Proteins of the CNR family are multiple receptors for Reelin. | Senzaki K , et al. (1999) | No | - |
2 | Primary | Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. | Persico AM , et al. (2001) | Yes | - |
3 | Negative Association | Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism. | Krebs MO , et al. (2002) | Yes | - |
4 | Negative Association | Analysis of reelin as a candidate gene for autism. | Bonora E , et al. (2003) | Yes | - |
5 | Negative Association | Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. | Devlin B , et al. (2004) | Yes | - |
6 | Negative Association | Lack of evidence for an association between WNT2 and RELN polymorphisms and autism. | Li J , et al. (2004) | Yes | - |
7 | Positive Association | Analysis of the RELN gene as a genetic risk factor for autism. | Skaar DA , et al. (2004) | Yes | - |
8 | Positive Association | Association of Reelin gene polymorphisms with autism. | Serajee FJ , et al. (2005) | Yes | - |
9 | Recent Recommendation | Layer acquisition by cortical GABAergic interneurons is independent of Reelin signaling. | Pla R , et al. (2006) | No | - |
10 | Recent Recommendation | Structure of a signaling-competent reelin fragment revealed by X-ray crystallography and electron tomography. | Nogi T , et al. (2006) | No | - |
11 | Recent Recommendation | NMDA receptor surface trafficking and synaptic subunit composition are developmentally regulated by the extracellular matrix protein Reelin. | Groc L , et al. (2007) | No | - |
12 | Positive Association | The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population. | Li H , et al. (2007) | Yes | - |
13 | Recent Recommendation | Expression of reelin, its receptors and its intracellular signaling protein, Disabled1 in the canary brain: relationships with the song control sys... | Balthazart J , et al. (2008) | No | - |
14 | Recent Recommendation | Heterozygous reeler mice exhibit alterations in sensorimotor gating but not presynaptic proteins. | Barr AM , et al. (2008) | No | - |
15 | Recent Recommendation | Neocortical RELN promoter methylation increases significantly after puberty. | Lintas C and Persico AM (2009) | No | - |
16 | Positive Association | Polymorphisms of candidate genes in Slovak autistic patients. | Kelemenova S , et al. (2010) | Yes | - |
17 | Positive Association | Linkage and candidate gene studies of autism spectrum disorders in European populations. | Holt R , et al. (2010) | Yes | - |
18 | Negative Association | No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population. | He Y , et al. (2010) | Yes | - |
19 | Support | Patterns and rates of exonic de novo mutations in autism spectrum disorders. | Neale BM , et al. (2012) | Yes | - |
20 | Support | De novo gene disruptions in children on the autistic spectrum. | Iossifov I , et al. (2012) | Yes | - |
21 | Recent Recommendation | Reelin, an extracellular matrix protein linked to early onset psychiatric diseases, drives postnatal development of the prefrontal cortex via GluN2... | Iafrati J , et al. (2013) | No | - |
22 | Support | Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut... | Koshimizu E , et al. (2013) | Yes | ID, epilepsy |
23 | Positive Association | Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population. | Fu X , et al. (2014) | Yes | - |
24 | Support | Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. | Cukier HN , et al. (2014) | Yes | - |
25 | Recent Recommendation | Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum. | Zhubi A , et al. (2014) | No | - |
26 | Positive Association | Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis. | Wang Z , et al. (2014) | Yes | - |
27 | Recent Recommendation | Reelin signaling specifies the molecular identity of the pyramidal neuron distal dendritic compartment. | Kupferman JV , et al. (2014) | No | - |
28 | Recent Recommendation | Synaptic, transcriptional and chromatin genes disrupted in autism. | De Rubeis S , et al. (2014) | Yes | - |
29 | Support | Whole-genome sequencing of quartet families with autism spectrum disorder. | Yuen RK , et al. (2015) | Yes | - |
30 | Recent Recommendation | LRP8-Reelin-Regulated Neuronal Enhancer Signature Underlying Learning and Memory Formation. | Telese F , et al. (2015) | No | - |
31 | Support | Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. | Dazzo E , et al. (2015) | No | - |
32 | Support | Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. | Zhang Y , et al. (2015) | No | - |
33 | Support | Comprehensive molecular testing in patients with high functioning autism spectrum disorder. | Alvarez-Mora MI , et al. (2016) | Yes | - |
34 | Recent Recommendation | Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects. | Lintas C , et al. (2016) | No | - |
35 | Support | De novo genic mutations among a Chinese autism spectrum disorder cohort. | Wang T , et al. (2016) | Yes | - |
36 | Support | Clinical exome sequencing: results from 2819 samples reflecting 1000 families. | Trujillano D , et al. (2016) | No | DD, ID, epilepsy/seizures |
37 | Recent Recommendation | Reelin-Haploinsufficiency Disrupts the Developmental Trajectory of the E/I Balance in the Prefrontal Cortex. | Bouamrane L , et al. (2017) | No | - |
38 | Recent Recommendation | The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression. | Whittaker DE , et al. (2017) | No | - |
39 | Support | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. | Stessman HA , et al. (2017) | Yes | - |
40 | Recent Recommendation | The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression. | Lammert DB , et al. (2017) | No | - |
41 | Support | Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. | Li J , et al. (2017) | Yes | - |
42 | Support | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder. | Krupp DR , et al. (2017) | Yes | - |
43 | Support | Expanding the genetic heterogeneity of intellectual disability. | Anazi S , et al. (2017) | No | Hypotonia, lissencephaly |
44 | Positive Association | Two single-nucleotide polymorphisms of the RELN gene and symptom-based and developmental deficits among children and adolescents with autistic spec... | Wang GF , et al. (2018) | Yes | - |
45 | Support | Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder. | Snchez-Snchez SM , et al. (2018) | Yes | - |
46 | Positive Association | A pilot Indian family-based association study between dyslexia and Reelin pathway genes, DCDC2 and ROBO1, identifies modest association with a tria... | Devasenapathy S , et al. (2018) | No | - |
47 | Highly Cited | A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. | D'Arcangelo G , et al. (1995) | No | - |
48 | Highly Cited | Role of reelin in the control of brain development. | Curran T and D'Arcangelo G (1998) | No | - |
Rare Variants (99)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.1108G>C | p.Gly370Arg | missense_variant | Familial | Maternal | Multiplex | 14515139 | Bonora E , et al. (2003) | |
c.1013T>G | p.Val338Gly | missense_variant | - | - | - | 14515139 | Bonora E , et al. (2003) | |
c.1888A>C | p.Ser630Arg | missense_variant | - | - | - | 14515139 | Bonora E , et al. (2003) | |
c.2989C>G | p.Leu997Val | missense_variant | - | - | - | 14515139 | Bonora E , et al. (2003) | |
c.3477C>A | p.Asn1159Lys | missense_variant | Familial | Maternal | Multiplex | 14515139 | Bonora E , et al. (2003) | |
c.3477C>A | p.Asn1159Lys | missense_variant | Familial | Paternal | Simplex | 14515139 | Bonora E , et al. (2003) | |
c.3839G>A | p.Gly1280Glu | missense_variant | - | - | - | 14515139 | Bonora E , et al. (2003) | |
c.5156C>T | p.Ser1719Leu | missense_variant | Familial | Maternal | Multiplex | 14515139 | Bonora E , et al. (2003) | |
c.5156C>T | p.Ser1719Leu | missense_variant | Familial | Paternal | Multiplex | 14515139 | Bonora E , et al. (2003) | |
c.5399C>T | p.Arg1742Trp | missense_variant | - | - | - | 14515139 | Bonora E , et al. (2003) | |
c.5225G>A | p.Arg1742Gln | missense_variant | Familial | Paternal | Simplex | 14515139 | Bonora E , et al. (2003) | |
c.5284G>A | p.Val1762Ile | missense_variant | Familial | Maternal | Multiplex | 14515139 | Bonora E , et al. (2003) | |
c.5284G>A | p.Val1762Ile | missense_variant | Familial | Paternal | Simplex | 14515139 | Bonora E , et al. (2003) | |
c.7044G>A | p.Arg2290His | missense_variant | Familial | Paternal | Multiplex | 14515139 | Bonora E , et al. (2003) | |
c.7438G>A | p.Gly2480Ser | missense_variant | - | - | - | 14515139 | Bonora E , et al. (2003) | |
c.8327A>G | p.Thr2718Ala | missense_variant | Familial | Paternal | Multiplex | 14515139 | Bonora E , et al. (2003) | |
c.2989C>G | p.Val997Leu | missense_variant | - | - | - | 16311013 | Serajee FJ , et al. (2005) | |
c.9606-57C>T | - | intron_variant | - | - | - | 16311013 | Serajee FJ , et al. (2005) | |
C to T | N/A | intron_variant | - | - | - | 17955477 | Li H , et al. (2007) | |
N/A | N/A | intron_variant | - | - | - | 20442744 | Holt R , et al. (2010) | |
c.1249C>T | p.Gln417Ter | stop_gained | De novo | - | Simplex | 22495311 | Neale BM , et al. (2012) | |
c.6868C>T | p.Arg2290Cys | missense_variant | De novo | - | Simplex | 22542183 | Iossifov I , et al. (2012) | |
c.8915A>C | p.Lys2972Thr | missense_variant | Unknown | - | Unknown | 24066114 | Koshimizu E , et al. (2013) | |
c.3839G>A | p.Gly1280Glu | missense_variant | Familial | - | Extended multiplex (at least one pair of ASD affec | 24410847 | Cukier HN , et al. (2014) | |
c.7565T>C | p.Phe2522Ser | missense_variant | De novo | - | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
del(A) | - | frameshift_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.763C>T | p.Arg255Trp | missense_variant | Familial | Paternal (n=1), maternal (n=1) | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6874C>T | p.Arg2292Cys | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.5711C>T | p.Thr1904Met | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.5179C>T | p.Arg1727Trp | missense_variant | Familial | Maternal | Multiplex | 25363760 | De Rubeis S , et al. (2014) | |
c.4739C>T | p.Pro1580Leu | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.10136C>G | p.Pro3379Arg | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.10120A>G | p.Ile3374Val | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6734C>G | p.Pro2245Arg | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6169C>G | p.Leu2057Val | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.2464A>G | p.Arg822Gly | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6726G>C | p.Arg2242Ser | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.1566G>C | p.Leu522Phe | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.10316G>A | p.Arg3439Gln | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.10276G>A | p.Val3426Ile | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7605C>T | p.Asn2535Lys | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7114G>A | p.Val2372Met | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6925G>A | p.Asp2309Asn | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6925G>A | p.Asp2309Asn | missense_variant | Familial | Maternal | Multiplex | 25363760 | De Rubeis S , et al. (2014) | |
c.5225G>A | p.Arg1742Gln | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.4228G>A | p.Glu1410Lys | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.1231C>A | p.Leu411Ile | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.1231C>A | p.Leu411Ile | missense_variant | Familial | Paternal | Multiplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7399C>T | p.Gln2467Ter | stop_gained | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.10276G>A | p.Val3426Ile | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.10120A>G | p.Ile3374Val | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.761G>T | p.Gly254Val | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.467G>A | p.Arg156His | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6647G>A | p.Arg2216Gln | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6458G>A | p.Gly2153Asp | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.5711C>T | p.Thr1904Met | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.4972G>A | p.Val1658Met | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.4379C>A | p.Pro1460His | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.3712A>C | p.Asn1238His | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.3565G>A | p.Ala1189Thr | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.2932A>G | p.Thr978Ala | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.1235C>T | p.Ser412Phe | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.8944G>A | p.Asp2982Asn | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.8499G>T | p.Arg2833Ser | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6520G>A | p.Glu2174Lys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6205T>C | p.Cys2069Arg | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.2351C>T | p.Thr784Met | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.1336G>C | p.Glu446Gln | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.7634C>T | p.Ala2545Val | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.7184T>C | p.Ile2395Thr | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.7114G>A | p.Val2372Met | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6925G>A | p.Asp2309Asn | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.5954C>A | p.Ser1985Tyr | missense_variant | De novo | - | Multiplex | 25621899 | Yuen RK , et al. (2015) | |
c.8347G>T | p.Gly2783Cys | missense_variant | Familial | - | Multi-generational | 26046367 | Dazzo E , et al. (2015) | |
c.2392C>A | p.His798Asn | missense_variant | Familial | - | Multi-generational | 26046367 | Dazzo E , et al. (2015) | |
c.2531C>T | p.Pro844Leu | missense_variant | Familial | - | Extended multiplex | 26046367 | Dazzo E , et al. (2015) | |
c.2288A>G | p.Asp763Gly | missense_variant | Familial | - | Multi-generational | 26046367 | Dazzo E , et al. (2015) | |
c.2015C>T | p.Pro672Leu | missense_variant | Familial | Maternal | Multi-generational | 26046367 | Dazzo E , et al. (2015) | |
c.2168A>G | p.Tyr723Cys | missense_variant | Familial | Maternal | Multiplex | 26046367 | Dazzo E , et al. (2015) | |
c.9526G>A | p.Glu3176Lys | missense_variant | Unknown | - | Multiplex | 26046367 | Dazzo E , et al. (2015) | |
c.[10276G>A];[2252A>C] | p.[Val3426Ile];[Lys751Thr] | missense_variant;missense_variant | Familial | Both parents | Simplex | 26544041 | Zhang Y , et al. (2015) | |
- | p.Tyr1183Cys | missense_variant | Familial | Maternal | - | 26845707 | Alvarez-Mora MI , et al. (2016) | |
c.1913C>T | p.Pro638Leu | missense_variant | Familial | Maternal | - | 27824329 | Wang T , et al. (2016) | |
c.9979G>T | p.Ala3327Ser | missense_variant | Familial | Maternal | - | 27824329 | Wang T , et al. (2016) | |
c.1913C>T | p.Pro638Leu | missense_variant | Familial | Paternal | - | 27824329 | Wang T , et al. (2016) | |
c.5180G>A | p.Arg1727Gln | missense_variant | Familial | Paternal | - | 27824329 | Wang T , et al. (2016) | |
c.425G>A | p.Ser142Asn | missense_variant | Familial | Paternal | - | 27824329 | Wang T , et al. (2016) | |
c.6311G>A | p.Arg2104His | missense_variant | Unknown | Not maternal | - | 27824329 | Wang T , et al. (2016) | |
c.[9841del];[9841del] | p.[Ala3281GlnfsTer11];[Ala3281GlnfsTer11] | frameshift_variant;frameshift_variant | Familial | Both parents | Simplex | 27848944 | Trujillano D , et al. (2016) | |
c.7966G>A | p.Asp2656Asn | missense_variant | De novo | - | - | 28191889 | Stessman HA , et al. (2017) | |
c.7399C>T | p.Gln2467Ter | stop_gained | De novo | - | - | 28191889 | Stessman HA , et al. (2017) | |
c.4726C>T | p.Arg1576Ter | stop_gained | De novo | - | - | 28191889 | Stessman HA , et al. (2017) | |
- | - | frameshift_variant | Familial | - | Simplex | 28831199 | Li J , et al. (2017) | |
c.3338G>A | p.Gly1113Glu | missense_variant | Familial | - | Simplex | 28831199 | Li J , et al. (2017) | |
c.6461A>G | p.Tyr2154Cys | missense_variant | Familial | - | Simplex | 28831199 | Li J , et al. (2017) | |
c.8404G>A | p.Gly2802Arg | missense_variant | Familial | - | Simplex | 28831199 | Li J , et al. (2017) | |
C>T | - | missense_variant | Familial | Maternal | Simplex | 28867142 | Krupp DR , et al. (2017) | |
c.[3711+2T>C];[3711+2T>C] | p.? | splice_site_variant;splice_site_variant | - | - | Multiplex | 28940097 | Anazi S , et al. (2017) | |
c.[7538C>G];[7634C>T] | p.[Ser2513Cys];[Ala2545Val] | missense_variant;missense_variant | Familial | Paternal and maternal | - | 29969175 | Snchez-Snchez SM , et al. (2018) |
Common Variants (9)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.-24_-22GGC(4_10) | - | trinucleotide_repeat_microsatellite_feature, 5_prime_UTR_variant | - | - | - | 11317216 | Persico AM , et al. (2001) | |
N/A | N/A | trinucleotide_repeat_microsatellite_feature, 5_prime_UTR_variant | - | - | - | 15558079 | Skaar DA , et al. (2004) | |
c.2989C>G | p.Val997Leu | missense_variant | - | - | - | 16311013 | Serajee FJ , et al. (2005) | |
c.9606-57T>C | C/T | intron_variant | - | - | - | 16311013 | Serajee FJ , et al. (2005) | |
N/A | N/A | trinucleotide_repeat_microsatellite_feature, 5_prime_UTR_variant | - | - | - | 20436377 | Kelemenova S , et al. (2010) | |
c.1075G>A | p.Val359Ile | missense_variant | - | - | - | 24385848 | Fu X , et al. (2014) | |
c.2989C>G | p.Val997Leu | missense_variant | - | - | - | 24453138 | Wang Z , et al. (2014) | |
c.8046T>C | p.(=) | synonymous_variant | - | - | - | 29753726 | Wang GF , et al. (2018) | |
c.9606-57T>C | - | intron_variant | - | - | - | 29753726 | Wang GF , et al. (2018) |
SFARI Gene score
High Confidence


1
Score Delta: Score remained at 1.1
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2018
10/1/2017

Score remained at 1
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations, the Chinese Han population and Caucasian AGRE families (Persico et al., 2001; Serajee et al., 2006; Ashley-Koch et al., 2007; Li et al., 2008; Holt et al., 2010; Fu et al., 2013). However, several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations (Zhang et al., 2002; Bonora et al., 2003; Dutta et al., 2008; He et al., 2011). Variable expression data in ASD brain tissue has also been reported (Fatemi et al., 2005; Garbett et al., 2008). A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified RELN as a gene meeting high statistical significance with a 0.01 < FDR ? 0.05, meaning that this gene had a ? 95% chance of being a true autism gene (PMID 25363760). Two additional de novo LoF variants and a likely damaging missense variant in RELN were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889). Lammert et al., 2017 demonstrated that several ASD-associated missense variants in the RELN gene, including a de novo missense variant identified in a Simons Simplex Collection proband, resulted in reduced RELN protein secretion from transfected cells (PMID 28419454).
4/1/2017

Score remained at 1
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01< FDR ?0.05, meaning that this gene had a ?95% chance of being a true autism gene (PMID 25363760). Two additional de novo LoF variants and a likely damaging missense variant in RELN were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017. Lammert et al., 2017 demonstrated that several ASD-associated missense variants in the RELN gene, including a de novo missense variant identified in a Simons Simplex Collection proband, resulted in reduced RELN protein secretion from transfected cells.
Reports Added
[Reelin-Haploinsufficiency Disrupts the Developmental Trajectory of the E/I Balance in the Prefrontal Cortex.2017] [Polymorphisms of candidate genes in Slovak autistic patients.2010] [Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis.2014] [Linkage and candidate gene studies of autism spectrum disorders in European populations.2010] [Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.2014] [Association of Reelin gene polymorphisms with autism.2005] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [LRP8-Reelin-Regulated Neuronal Enhancer Signature Underlying Learning and Memory Formation.2015] [Layer acquisition by cortical GABAergic interneurons is independent of Reelin signaling.2006] [Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017] [Neocortical RELN promoter methylation increases significantly after puberty.2009] [Structure of a signaling-competent reelin fragment revealed by X-ray crystallography and electron tomography.2006] [Reelin, an extracellular matrix protein linked to early onset psychiatric diseases, drives postnatal development of the prefrontal cortex via GluN2...2013] [The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.2017] [No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population.2010] [De novo gene disruptions in children on the autistic spectrum.2012] [Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects.2016] [Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.2001] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016] [Expression of reelin, its receptors and its intracellular signaling protein, Disabled1 in the canary brain: relationships with the song control sys...2008] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression.2017] [The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.2007] [Reelin signaling specifies the molecular identity of the pyramidal neuron distal dendritic compartment.2014] [Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism.2002] [NMDA receptor surface trafficking and synaptic subunit composition are developmentally regulated by the extracellular matrix protein Reelin.2007] [Role of reelin in the control of brain development.1998] [Heterozygous reeler mice exhibit alterations in sensorimotor gating but not presynaptic proteins.2008] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Analysis of reelin as a candidate gene for autism.2003] [Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population.2014] [Analysis of the RELN gene as a genetic risk factor for autism.2004] [Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.2004] [Lack of evidence for an association between WNT2 and RELN polymorphisms and autism.2004] [A protein related to extracellular matrix proteins deleted in the mouse mutant reeler.1995] [Patterns and rates of exonic de novo mutations in autism spectrum disorders.2012] [Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.2014] [Proteins of the CNR family are multiple receptors for Reelin.1999] [De novo genic mutations among a Chinese autism spectrum disorder cohort.2016]1/1/2017

Decreased from 2 to 1
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01< FDR ?0.05, meaning that this gene had a ?95% chance of being a true autism gene (PMID 25363760). Two additional de novo LoF variants and a likely damaging missense variant in RELN were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017.
Reports Added
[Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017] [The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.2017] [Reelin-Haploinsufficiency Disrupts the Developmental Trajectory of the E/I Balance in the Prefrontal Cortex.2017]10/1/2016

Decreased from 2 to 2
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01
4/1/2016

Decreased from 2 to 2
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01
Reports Added
[Reelin, an extracellular matrix protein linked to early onset psychiatric diseases, drives postnatal development of the prefrontal cortex via GluN2...2013] [Polymorphisms of candidate genes in Slovak autistic patients.2010] [Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis.2014] [Linkage and candidate gene studies of autism spectrum disorders in European populations.2010] [NMDA receptor surface trafficking and synaptic subunit composition are developmentally regulated by the extracellular matrix protein Reelin.2007] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [Association of Reelin gene polymorphisms with autism.2005] [Reelin signaling specifies the molecular identity of the pyramidal neuron distal dendritic compartment.2014] [Layer acquisition by cortical GABAergic interneurons is independent of Reelin signaling.2006] [Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.2014] [Neocortical RELN promoter methylation increases significantly after puberty.2009] [Structure of a signaling-competent reelin fragment revealed by X-ray crystallography and electron tomography.2006] [No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population.2010] [De novo gene disruptions in children on the autistic spectrum.2012] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.2001] [Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects.2016] [Expression of reelin, its receptors and its intracellular signaling protein, Disabled1 in the canary brain: relationships with the song control sys...2008] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.2007] [Role of reelin in the control of brain development.1998] [Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism.2002] [LRP8-Reelin-Regulated Neuronal Enhancer Signature Underlying Learning and Memory Formation.2015] [Heterozygous reeler mice exhibit alterations in sensorimotor gating but not presynaptic proteins.2008] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Analysis of reelin as a candidate gene for autism.2003] [Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population.2014] [Analysis of the RELN gene as a genetic risk factor for autism.2004] [A protein related to extracellular matrix proteins deleted in the mouse mutant reeler.1995] [Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.2004] [Lack of evidence for an association between WNT2 and RELN polymorphisms and autism.2004] [Proteins of the CNR family are multiple receptors for Reelin.1999] [Patterns and rates of exonic de novo mutations in autism spectrum disorders.2012] [Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.2014]1/1/2016

Decreased from 2 to 2
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01
Reports Added
[Polymorphisms of candidate genes in Slovak autistic patients.2010] [Linkage and candidate gene studies of autism spectrum disorders in European populations.2010] [NMDA receptor surface trafficking and synaptic subunit composition are developmentally regulated by the extracellular matrix protein Reelin.2007] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [Association of Reelin gene polymorphisms with autism.2005] [A protein related to extracellular matrix proteins deleted in the mouse mutant reeler.1995] [Layer acquisition by cortical GABAergic interneurons is independent of Reelin signaling.2006] [Reelin signaling specifies the molecular identity of the pyramidal neuron distal dendritic compartment.2014] [Reelin, an extracellular matrix protein linked to early onset psychiatric diseases, drives postnatal development of the prefrontal cortex via GluN2...2013] [Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis.2014] [Neocortical RELN promoter methylation increases significantly after puberty.2009] [Structure of a signaling-competent reelin fragment revealed by X-ray crystallography and electron tomography.2006] [No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population.2010] [De novo gene disruptions in children on the autistic spectrum.2012] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.2001] [LRP8-Reelin-Regulated Neuronal Enhancer Signature Underlying Learning and Memory Formation.2015] [Expression of reelin, its receptors and its intracellular signaling protein, Disabled1 in the canary brain: relationships with the song control sys...2008] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.2007] [Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism.2002] [Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.2014] [Heterozygous reeler mice exhibit alterations in sensorimotor gating but not presynaptic proteins.2008] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Analysis of reelin as a candidate gene for autism.2003] [Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population.2014] [Analysis of the RELN gene as a genetic risk factor for autism.2004] [Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.2004] [Lack of evidence for an association between WNT2 and RELN polymorphisms and autism.2004] [Role of reelin in the control of brain development.1998] [Proteins of the CNR family are multiple receptors for Reelin.1999] [Patterns and rates of exonic de novo mutations in autism spectrum disorders.2012] [Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.2014]4/1/2015

Decreased from 2 to 2
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01
1/1/2015

Decreased from 2 to 2
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01
10/1/2014

Decreased from 3 to 2
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01
7/1/2014

Increased from No data to 3
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists.
Reports Added
[Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis.2014] [A protein related to extracellular matrix proteins deleted in the mouse mutant reeler.1995] [Role of reelin in the control of brain development.1998] [Proteins of the CNR family are multiple receptors for Reelin.1999] [Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.2001] [Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism.2002] [Analysis of reelin as a candidate gene for autism.2003] [Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.2004] [Lack of evidence for an association between WNT2 and RELN polymorphisms and autism.2004] [Analysis of the RELN gene as a genetic risk factor for autism.2004] [Association of Reelin gene polymorphisms with autism.2005] [Layer acquisition by cortical GABAergic interneurons is independent of Reelin signaling.2006] [Structure of a signaling-competent reelin fragment revealed by X-ray crystallography and electron tomography.2006] [NMDA receptor surface trafficking and synaptic subunit composition are developmentally regulated by the extracellular matrix protein Reelin.2007] [The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.2007] [Expression of reelin, its receptors and its intracellular signaling protein, Disabled1 in the canary brain: relationships with the song control sys...2008] [Heterozygous reeler mice exhibit alterations in sensorimotor gating but not presynaptic proteins.2008] [Neocortical RELN promoter methylation increases significantly after puberty.2009] [Polymorphisms of candidate genes in Slovak autistic patients.2010] [Linkage and candidate gene studies of autism spectrum disorders in European populations.2010] [No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population.2010] [Patterns and rates of exonic de novo mutations in autism spectrum disorders.2012] [De novo gene disruptions in children on the autistic spectrum.2012] [Reelin, an extracellular matrix protein linked to early onset psychiatric diseases, drives postnatal development of the prefrontal cortex via GluN2...2013] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population.2014] [Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.2014] [Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.2014] [Reelin signaling specifies the molecular identity of the pyramidal neuron distal dendritic compartment.2014]4/1/2014

Increased from No data to 3
Description
Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists.
Krishnan Probability Score
Score 0.59647240907854
Ranking 436/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 1
Ranking 15/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.2518881696863
Ranking 144/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 97.5
Ranking 9/461 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.64382315238865
Ranking 19/20870 scored genes
[Show Scoring Methodology]
CNVs associated with RELN(1 CNVs)
Sort By:
7q22.1 | 21 | Deletion-Duplication | 37 / 143 |
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
EPHB3 | EPH receptor B3 | Human | Protein Binding | 2049 | P54753 |