Human Gene Module / Chromosome 5 / GABRB2

GABRB2gamma-aminobutyric acid type A receptor subunit beta2

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
3 / 0
Aliases
GABRB2, ICEE2
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
5q34
Associated Disorders
-
Relevance to Autism

Three de novo missense variants in the GABRB2 gene, including one that was predicted to be damaging (defined as MPC 2), were identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Iossifov et al., 2014; Satterstrom et al., 2020), while two protein-truncating variants in this gene were observed in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified GABRB2 as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).

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 GABA A receptor, beta 2 subunit. Heterozygous mutations in this gene are responsible for infantile or early childhood epileptic encephalopathy-2 (IECEE2; OMIM 617829), a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability.

Reports related to GABRB2 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
2 Recent recommendation Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Satterstrom FK , et al. (2020) Yes -
Rare Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.50T>C p.Leu17Ser missense_variant De novo NA Simplex 25363768 Iossifov I , et al. (2014)
c.946G>A p.Val316Ile missense_variant De novo NA Simplex 31981491 Satterstrom FK , et al. (2020)
c.1088A>C p.His363Pro missense_variant De novo NA Simplex 31981491 Satterstrom FK , et al. (2020)
Common Variants  

No common variants reported.

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