QRICH1
Homo sapiens
Gene Name: glutamine rich 1
Aliases:
Chromosome No: 3
Chromosome Band: 3p21.31
Genetic Category: Rare single gene variant-Syndromic-Rare single gene variant/Functional
Associated Syndrome(s): Ververi-Brady syndrome
Aliases:
Chromosome No: 3
Chromosome Band: 3p21.31
Genetic Category: Rare single gene variant-Syndromic-Rare single gene variant/Functional
Associated Syndrome(s): Ververi-Brady syndrome
Summary Statistics:
ASD Reports: 14
Recent Reports: 3
Annotated variants: 57
Associated CNVs: 2
Evidence score: 4
ASD Reports: 14
Recent Reports: 3
Annotated variants: 57
Associated CNVs: 2
Evidence score: 4
| Associated Disorders: |
|
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
QRICH1 mutations cause a chondrodysplasia with developmental delay
Ververi-Brady syndrome, DD
ID
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Support
A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review
DD, ID
ADHD
Support
Prevalence and architecture of de novo mutations in developmental disorders
Developmental disorders
Support
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum
Ververi-Brady syndrome
DD, ID, impaired social interactions
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network
DD, epilepsy/seizures
ID
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Recent Recommendation
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
DD, ID
ASD, ADHD, epilepsy/seizures
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
GEN919R009
stop_gained
c.138_139delinsTT
p.Gln46_Gln47delinsHisTer
De novo
Multiplex
GEN919R013
frameshift_variant
c.832_833del
p.Ser278LeufsTer25
De novo
Simplex
GEN919R015
frameshift_variant
c.1812_1813del
p.Glu605GlyfsTer25
De novo
Multiplex
Common
No Common Variants Available
