NF1 Gene and Neurofibromatosis Type 1: Mutations and Clinical Trials
The NF1 gene sits on chromosome 17q11.2, and its full name is neurofibromin 1. Orphanet links NF1 to 11 rare conditions and lists variants in the gene as a cause of 8 of them. Trial Friend's Neurofibromatosis Type 1 and Pheochromocytoma pages list NF1 among the genes behind each condition. As of September 29, 2026, 16 recruiting or soon-opening trials on ClinicalTrials.gov name NF1 as a gene.
What the NF1 gene does
NF1 makes neurofibromin, a tumor suppressor protein. It helps keep cells from growing and dividing too fast by turning off a growth-signaling protein called Ras.
Summarized from the NF1 page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
Conditions linked to NF1 on Trial Friend
These condition pages list NF1 among the genes behind the condition, checked against genetics references when each page was written.
One disease-causing variant can be enough to cause the condition.
About half of cases are de novo NF1 variants; the diagnosis can be made clinically, with NF1 testing used to confirm.
One disease-causing variant can be enough to cause the condition.
About 35% of cases are hereditary, so germline panel testing is recommended for essentially all patients.
NF1 mutation clinical trials
These recruiting or soon-opening trials mention NF1 as a gene in their title, summary, eligibility rules or keywords. Some want people with a variant in it, and others study it more broadly, which is why each trial's own words are shown. In cancer trials the gene change is usually one found in the tumor rather than one a person inherited.
16 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to NF1 gene mutations
Orphanet records how each gene relates to each condition. Orphanet links NF1 to 11 rare conditions and lists variants in the gene as a cause of 8 of them.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
- Causes it, acquired. Variants that arise during life in the tumor or affected cells cause the condition. They are not inherited.
- Plays a part. Orphanet lists the gene as shaping the condition, often as one of several genes in a missing or extra piece of a chromosome.
- Tested as a marker. The gene is tested to help diagnose or classify the condition rather than as its cause.
NF1 genetic test results and what a variant can mean
Labs sort each variant they find into 5 groups, from pathogenic and likely pathogenic through uncertain significance to likely benign and benign. Only the first 2 are usually treated as the cause of a condition. A variant of uncertain significance, or VUS, is one without enough evidence either way yet, and labs can reclassify it as research builds.
A genetic counselor or your doctor can explain what a specific result means for you and your family. Our genetic testing guide covers the terms, and MedlinePlus Genetics from the National Library of Medicine has a plain-language page on NF1.
NF1 gene questions
What does the NF1 gene do?
NF1 makes neurofibromin, a tumor suppressor protein. It helps keep cells from growing and dividing too fast by turning off a growth-signaling protein called Ras. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with NF1 gene variants?
As of September 29, 2026, 16 recruiting or soon-opening trials on ClinicalTrials.gov name NF1 as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 55 open trials for Neurofibromatosis Type 1 and 44 for Pheochromocytoma, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the NF1 gene?
Orphanet links NF1 to 11 rare conditions and lists variants in the gene as a cause of 8 of them. They include Hereditary pheochromocytoma-paraganglioma, Mosaic neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, Neurofibromatosis-Noonan syndrome, Alveolar rhabdomyosarcoma, Embryonal rhabdomyosarcoma and 5 more. Orphanet is the European rare disease database run by INSERM in Paris.
How is Neurofibromatosis Type 1 inherited?
The inheritance pattern is autosomal dominant. One disease-causing variant can be enough to cause the condition. About half of cases are de novo NF1 variants; the diagnosis can be made clinically, with NF1 testing used to confirm.
How is Pheochromocytoma inherited?
The inheritance pattern is autosomal dominant. One disease-causing variant can be enough to cause the condition. About 35% of cases are hereditary, so germline panel testing is recommended for essentially all patients.
What does an NF1 variant of uncertain significance mean?
A variant of uncertain significance, or VUS, is a change in the gene that labs don't yet have enough evidence to call disease-causing or harmless. It is not used on its own to diagnose a condition, and labs can reclassify it as research builds. A genetic counselor can explain what a specific result means for you and your family.
Sources
- Gene and condition links from Orphadata (Orphanet, INSERM US14), used under CC BY 4.0, read September 29, 2026.
- Trials from ClinicalTrials.gov, read September 29, 2026.
- NF1 gene, MedlinePlus Genetics, U.S. National Library of Medicine.
- Inheritance and gene notes from the Trial Friend condition pages above, each checked against genetics references.
Other gene pages
The gene search covers every gene Orphanet links to a rare disease.