ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)

Haploinsufficiency phenotype comments:

While haploinsufficiency for NCF1 alone has not been demonstrated, deletions involving the larger 7q11.23 region cause the contiguous gene deletion disorder, Williams-Beuren syndrome (WBS) (MIM #194050). Deletions of this region in WBS patients variably include the NCF1 gene. Genotype-phenotype correlation studies suggest that WBS patients with deletions that do not include this gene may be at higher risk for hypertension [PMID 16532385]. Homozygous mutation of NCF1 causes autosomal recessive chronic granulomatous disease (MIM #233700).

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

Triplosensitivity phenotype comment:

NCF1 is variably included in the duplication of patients with the chromosome 7q11.23 microduplication syndrome [MIM #609757], however it is not known whether increased NCF1 gene dosage contributes to any of the associated phenotypes; focal NCF1 duplication has not been reported.