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Relevance to Autism

Three de novo missense variants in the GRIK5 gene have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.01) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).

Molecular Function

This gene encodes a protein that belongs to the glutamate-gated ionic channel family and forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities.
ASD, SCZ
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
ASD or autistic features
ADHD, behavioral problems
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN722R001 
 missense_variant 
 c.2488A>G 
 p.Thr830Ala 
 De novo 
 NA 
 Simplex 
 GEN722R002 
 missense_variant 
 c.1325G>A 
 p.Arg442His 
 De novo 
 NA 
 Simplex 
 GEN722R003 
 missense_variant 
 c.1388G>A 
 p.Arg463His 
 De novo 
 NA 
 Simplex 
 GEN722R004 
 synonymous_variant 
 c.531G>T 
 p.Leu177= 
 De novo 
 NA 
 Simplex 
 GEN722R005 
 missense_variant 
 c.1840G>A 
 p.Ala614Thr 
 Familial 
  
 Multi-generational 
 GEN722R006 
 missense_variant 
 c.1709A>G 
 p.Tyr570Cys 
 Unknown 
  
 Multiplex 
 GEN722R007 
 missense_variant 
 c.1459G>A 
 p.Glu487Lys 
 Unknown 
  
 Simplex 
 GEN722R008 
 stop_gained 
 c.1992C>T 
 p.Ile664= 
 Unknown 
  
 Unknown 
 GEN722R009 
 missense_variant 
 c.2684C>G 
 p.Ala895Gly 
 Unknown 
  
 Unknown 
 GEN722R010 
 splice_site_variant 
 c.1270-1G>T 
  
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion
 1
 
19
Duplication
 1
 
19
Deletion
 5
 

No Animal Model Data Available

No PIN Data Available
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