GABRA3
Homo sapiens
Gene Name: Gamma-aminobutyric acid (GABA) A receptor, alpha 3
Aliases:
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare Single Gene variant-Syndromic
Aliases:
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare Single Gene variant-Syndromic
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 11
Evidence score: 0
ASD Reports: 3
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 11
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
A maternally-inherited missense variant in GABRA3 that resulted in skipping of exon 2 of the gene was detected in a male ASD patient (Piton et al., 2012).
Molecular Function
Subunit of the GABA receptor. GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
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
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Epilepsy/seizures
DD
Recent Recommendation
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Epilepsy/seizures
DD, ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN481R002
missense_variant
c.725A>T
p.Gln242Leu
Familial
Maternal
Multi-generational
GEN481R003
missense_variant
c.497C>T
p.Thr166Met
Familial
Maternal
Multi-generational
GEN481R007
missense_variant
c.139G>A
p.Gly47Arg
Familial
Maternal
Multiplex
GEN481R008
missense_variant
c.1219C>T
p.Leu407=
Familial
Maternal
Multi-generational
Common
No Common Variants Available
