ClinGen Dosage Sensitivity Curation Page

GTF2IRD1

  • 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 GTF2IRD1 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 implicated GTF2IRD1 in neurocognitive, motor function, and craniofacial aspects of WBS [see PMIDs 19897463 and 22198572].

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

Triplosensitivity phenotype comment:

GTF2IRD1 is typically included in the duplication of patients with the chromosome 7q11.23 microduplication syndrome (MIM #609757), however it is not known whether increased gene dosage contributes to any of the associated phenotypes; focal GTF2IRD1 duplication has not been reported.