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: 6
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 3
Evidence score: 3
ASD Reports: 6
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 3
Evidence score: 3
| Associated Disorders: |
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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 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
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
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
