ClinGen Dosage Sensitivity Curation Page

GABRB3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Missense mutations in GABRB3 have been associated with susceptibility to childhood absence epilepsy-5 (612269).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

PMID:18925931 Cai et al. (2008) identified a de novo 1 Mb duplication including ATP10A and GABRB3 using MLPA probes in a proband with autism. This gain was not detected in an affected sibling.