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Relevance to Autism

SNPs in GRM7 associated with ASD in a pilot study of Chinese ASD cases (Yang et al., 2013). A de novo exonic deletion in GRM7 was identified in a proband with ASD and hyperactivity; three of the exons within the breakpoint boundaries of this deletion were predicted to be under purifying selection and highly expressed in prenatal brain regions (Liu et al., 2015). A de novo missense variant in GRM7 was also identified in an ASD proband from the Simons Simplex Collection (Sanders et al., 2012).

Molecular Function

This gene encodes for a G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Variants in this gene have been shown to associate with schizophrenia, ADHD, and bipolar disorder.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Role of metabotropic glutamate receptor 7 in autism spectrum disorders: a pilot study.
ASD
Positive Association
Allelic association, DNA resequencing and copy number variation at the metabotropic glutamate receptor GRM7 gene locus in bipolar disorder.
BPD
Positive Association
Association between the GRM7 rs3792452 polymorphism and attention deficit hyperacitiveity disorder in a Korean sample.
ADHD
Positive Association
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
ADHD
Positive Association
A family-based association study of DNA sequence variants in GRM7 with schizophrenia in an Indonesian population.
SCZ
Positive Association
Association study of polymorphisms in the group III metabotropic glutamate receptor genes, GRM4 and GRM7, with schizophrenia.
SCZ
Positive Association
A polymorphism of the metabotropic glutamate receptor mGluR7 (GRM7) gene is associated with schizophrenia.
SCZ
Positive Association
Glutamate receptor, metabotropic 7 (GRM7) gene variations and susceptibility to autism: A case-control study.
ASD
Negative Association
Lack of association between the GRM7 gene and attention deficit hyperactivity disorder.
ADHD
Support
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
ID, epilepsy/seizures, microcephaly
Support
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
DD, epilepsy/seizures
Support
Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder.
ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN716R001 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN716R002 
 missense_variant 
 c.1865G>A 
 p.Arg622Gln 
 De novo 
 NA 
 Simplex 
 GEN716R003a 
 missense_variant 
 c.461T>C 
 p.Ile154Thr 
 Familial 
 Both parents 
 Multiplex 
 GEN716R004a 
 missense_variant 
 c.1972C>T 
 p.Arg658Trp 
 Familial 
  
 Multiplex 
 GEN716R004b 
 missense_variant 
 c.2024C>A 
 p.Thr675Lys 
 Familial 
  
 Multiplex 
 GEN716R005a 
 stop_gained 
 c.1757G>A 
 p.Trp586Ter 
 Familial 
 Both parents 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN716C001 
 intron_variant 
 rs6782011 
 c.1376-3623C>T 
  
 22 ASD cases, 14 non-ASD cases (ID,DD,ADHD), and 18 controls; Chinese descent 
 Discovery 
 GEN716C002 
 intron_variant 
 rs779867 
 c.1175-9823T>C 
  
 23 ASD cases, 14 non-ASD cases (ID,DD,ADHD), and 18 controls; Chinese descent 
 Discovery 
 GEN716C003 
 copy_number_loss 
  
  
  
 Discovery: 1013 European ADHD cases from CHOP, 4105 healthy European controls; Replication: 2493 cases, 9222 controls 
 Discovery & Replication 
 GEN716C004 
 intron_variant 
 rs3792452 
 c.2451+45740C>T 
  
 148 Korean ADHD trios 
 Discovery 
 GEN716C005 
 intron_variant 
 rs1508724 
 c.736+53390G>A 
  
 UCL1 cohort: 553 bipolar cases, 547 control samples; Combined cohort: 1146 cases, 1189 controls 
 Discovery 
 GEN716C006 
 intron_variant 
 rs11710946 
 c.736+57886C>T 
  
 UCL1 cohort: 553 bipolar cases, 547 control samples 
 Discovery 
 GEN716C007 
 intron_variant 
 rs6769814 
 c.736+63078A>G 
  
 UCL1 cohort: 553 bipolar cases, 547 control samples; Combined cohort: 1146 cases, 1189 controls 
 Discovery 
 GEN716C008 
 3_prime_UTR_variant 
 rs56173829 
 c.*401A>T;c.*472A>T 
  
 UCL cohort: 1146 cases, 1189 controls 
 Discovery 
 GEN716C009 
 synonymous_variant 
 rs3749380 
 c.222C>T 
 p.(=) 
 2293 Japanese SCZ cases, 2382 Japanese controls 
 Discovery 
 GEN716C010 
 intron_variant 
 rs12491620 
 c.1033+45994C>G 
  
 Japanese SCZ cases, Japanese controls 
 Discovery 
 GEN716C011 
 intron_variant 
 rs1450099 
 c.1515+34967T>G 
  
 Japanese SCZ cases, Japanese controls 
 Discovery 
 GEN716C012 
 intron_variant 
 rs17031835 
 c.519+18164C>T 
  
 124 Indonesian families comprising 540 individuals (267 individuals affected with SCZ or SCZ-AFF) 
 Discovery 
 GEN716C013 
 intron_variant 
 rs779867 
 c.1175-9823T>C 
  
 518 Iranian ASD cases and 472 age, gender, and ethnicity-matched control individuals 
 Replication 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 19
 
3
Duplication
 3
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion
 2
 
3
Deletion
 4
 
3
Duplication
 1
 

No Animal Model Data Available

 

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