Gabrq
Homo sapiens
Gene Name: Gamma-aminobutyric acid (GABA) A receptor, theta
Aliases: THETA
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare Single Gene variant
Aliases: THETA
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 0
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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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
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
ASD
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
GEN480R002
frameshift_variant
c.1330del
p.Leu444TrpfsTer7
Familial
Paternal
Multiplex
GEN480R006
missense_variant
c.979G>T
p.Ala327Ser
Familial
Maternal
Simplex
Common
No Common Variants Available
