IQGAP3
Homo sapiens
Gene Name: IQ motif containing GTPase activating protein 3
Aliases:
Chromosome No: 1
Chromosome Band: 1q22
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 1
Chromosome Band: 1q22
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 3
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Two de novo missense variants in the IQGAP3 gene were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014; one of these missense variants was predicted in silico to be pathogenic. IQGAP3 was identified in Stessman et al. as one of eight genes showing a bias for autism versus intellectual disability (two one-tailed binomial tests, P<0.025 for either ASD or ID/DD cases) in a cohort of NDD cases.
Molecular Function
This gene encodes a protein of unknown function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN874R003
frameshift_variant
c.3280del
p.Ser1094AlafsTer13
Familial
Maternal
Simplex
GEN874R012
splice_site_variant
c.3422+1G>A
Familial
Maternal
Multiplex (monozygotic twins)
Common
No Common Variants Available
