Aliases: ICEE2
Chromosome No: 5
Chromosome Band: 5q34
Genetic Category: Rare single gene variant
ASD Reports: 6
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
| 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.
External Links
