ClinGen Dosage Sensitivity Curation Page

GNAI3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Heterozygous missense mutations of GNAI3 are associated with autosomal dominant auriculocondylar syndrome 1 (Rieder MJ et al. 2012, PMID: 22560091). At the time of this review, there is no evidence that haploinsufficiency of this gene is associated with an abnormal phenotype. Evidence suggests that gain of function mutations in GNAI3 may be responsible for the phenotype (PMID: 22560091).

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

Triplosensitivity phenotype comment:

No evidence of triplosensitivity found at the time of this review.