ClinGen Dosage Sensitivity Curation Page
NF1
- Curation Status: Complete
- id: ISCA-3802
- Date last evaluated: 2012-07-12
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about NF1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/4763
- OMIM: https://omim.org/entry/613113
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NF1%5Bgenesymbol%5D
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
- See related regions:
- 17q11.2 recurrent region (includes NF1)
Select assembly:
(NC_000017.10)
(NC_000017.11)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: NEUROFIBROMATOSIS, TYPE I; NF1
| 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.