ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
1757093 Estivill et al (1991) analyzed exon 4 of the NF1 gene in 38 patients with NF1. In one patient, they found a de novo nonsense mutation (R365X). Other groups also reported this mutation in NF1 patients.
1302608 Upadhyaya et al. (1992) analyzed the NF1 gene in 200 patients with NF1. They found multiple mutations, including a single bp insertion resulting in a frameshift and premature stop codon in two unrelated patients.
See Gene Reviews for additional mutations.

Haploinsufficiency phenotype comments:

Mutations and deletions of NF1 are associated with neurofibromatosis 1.

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

Triplosensitivity phenotype comment:

Moles et al. (2012) (PMID 22241097) reported 7 individuals with microduplications involving NF1 (along with several other genes). The phenotypes of the patients are variable, including DD/ID and seizures. These duplications are mediated by NAHR and have been reported by another group (Grisart 2008 EJHG). The microduplication region is ~1.4 Mb and includes at least 10 genes.