ClinGen Dosage Sensitivity Curation Page

GTF2I

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

While haploinsufficiency for GTF2I alone has not been demonstrated, deletions involving the larger 7q11.23 region cause the contiguous gene deletion disorder, Williams-Beuren syndrome (WBS) (MIM #194050). Genotype-phenotype correlation studies of patients with atypical 7q11.23 deletions and studies of mouse models have suggested an association between GTF2I and neurocognitive and behavioral aspects of WBS [see PMIDs 19897463 and 21328569 for recent reviews of the literature].

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

Triplosensitivity phenotype comment:

GTF2I is variably duplicated in the chromosome 7q11.23 microduplication syndrome (MIM #609757), however more often, the distal duplication breakpoint overlaps this gene. Focal GTF2I duplication has not been reported. GTF2I SNP association studies and studies of mouse models suggest increased GTF2I dosage may contribute to autistic and separation anxiety phenotypes, respectively, observed in this syndrome [see PMIDs 22048961 and 22578324].