HELP     Sign In
Search

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
 GEN481R001 
 splice_site_variant 
 c.34A>T 
 p.Thr12Ser 
 Familial 
 Maternal 
  
 GEN481R002 
 missense_variant 
 c.725A>T 
 p.Gln242Leu 
 Familial 
 Maternal 
 Multi-generational 
 GEN481R003 
 missense_variant 
 c.497C>T 
 p.Thr166Met 
 Familial 
 Maternal 
 Multi-generational 
 GEN481R004 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN481R005 
 missense_variant 
 c.*154A>G 
  
 De novo 
 NA 
 Simplex 
 GEN481R006 
 missense_variant 
 c.*154A>G 
  
 De novo 
 NA 
 Simplex 
 GEN481R007 
 missense_variant 
 c.139G>A 
 p.Gly47Arg 
 Familial 
 Maternal 
 Multiplex 
 GEN481R008 
 missense_variant 
 c.1219C>T 
 p.Leu407= 
 Familial 
 Maternal 
 Multi-generational 
 GEN481R009 
 missense_variant 
 c.902C>T 
 p.Pro301Leu 
 Unknown 
  
  

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

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.