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Relevance to Autism

A maternally-inherited missense variant in GABRQ that resulted in altered splicing of the gene was identified in a female ASD patient (Piton et al., 2012).

Molecular Function

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. This gene location is also the candidate region of two different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
ASD, SCZ
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
DD
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
 GEN480R001 
 splice_site_variant 
 c.306G>C 
 p.Met102Ile 
 Familial 
 Maternal 
  
 GEN480R002 
 frameshift_variant 
 c.1330del 
 p.Leu444TrpfsTer7 
 Familial 
 Paternal 
 Multiplex 
 GEN480R003 
 missense_variant 
 c.47T>A 
 p.Ile16Asn 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 1
 
X
Deletion
 2
 
X
Deletion-Duplication
 1
 
X
Deletion
 7
 
X
Deletion-Duplication
 65
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Egr1 early growth response 1 13653 P08046 ChIP-qPCR
Mo J , et al. 2015

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