HELP     Sign In
Search

Relevance to Autism

A de novo frameshift variant in the QRICH1 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014. De novo loss-of-function variants in QRICH1 were subsequently identified in three patients presenting with developmental delay/intellectual disability in Ververi et al., 2017; one of these three patients was also diagnosed with ASD.

Molecular Function

This gene encodes a protein of unknown function.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
ASD
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Recent Recommendation
Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
DD, ID
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN919R001 
 frameshift_variant 
 c.137del 
 p.Gln46ArgfsTer200 
 De novo 
 NA 
  
 GEN919R002 
 missense_variant 
 C>G 
 p.Gln421His 
 Familial 
 Maternal 
  
 GEN919R003 
 missense_variant 
 c.1263G>C 
 p.Gln421His 
 Familial 
 Paternal 
  
 GEN919R004 
 stop_gained 
 c.1954C>T 
 p.Arg652Ter 
 Unknown 
  
  
 GEN919R005 
 missense_variant 
 c.2204A>G 
 p.Asn735Ser 
 Unknown 
  
  
 GEN919R006 
 missense_variant 
 c.1604C>T 
 p.Ala535Val 
 Unknown 
  
  
 GEN919R007 
 stop_gained 
 c.1954C>T 
 p.Arg652Ter 
 De novo 
 NA 
 Simplex 
 GEN919R008 
 frameshift_variant 
 c.1953dup 
 p.Arg652AlafsTer9 
 De novo 
 NA 
 Simplex 
 GEN919R009 
 stop_gained 
 c.138_139delinsTT 
 p.Gln46_Gln47delinsHisTer 
 De novo 
 NA 
 Multiplex 
 GEN919R010 
 splice_site_variant 
 c.2047+1G>A 
  
 De novo 
 NA 
 Unknown 
 GEN919R011 
 stop_gained 
 c.2071C>T 
 p.Gln691Ter 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 14
 
3
Duplication
 1
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.