Gene:
NF1
neurofibromin 1

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  Watson disease; neurofibromatosis; von Recklinghausen disease
Alternate Symbols:  None
PharmGKB Accession Id: PA31572

Details

Cytogenetic Location: chr17 : q11.2 - q11.2
GP mRNA Boundary: chr17 : 29421945 - 29704695
GP Gene Boundary: chr17 : 29411945 - 29707695
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. chromatin remodeling by hswi/snf atp-dependent complexes - (BioCarta via Pathway Interaction Database)
  2. FOXA2 and FOXA3 transcription factor networks - (Pathway Interaction Database NCI-Nature Curated)
  3. Syndecan-2-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)

Publications related to NF1: 5

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Key pathways are frequently mutated in high risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2011. Zhang Jinghui, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008. Ding Li, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
An integrated genomic analysis of human glioblastoma multiforme. Science (New York, N.Y.). 2008. Parsons D Williams, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The consensus coding sequences of human breast and colorectal cancers. Science (New York, N.Y.). 2006. Sjöblom Tobias, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Double inactivation of NF1 in tibial pseudarthrosis. American journal of human genetics. 2006. Stevenson David A, et al. PubMed

LinkOuts

Entrez Gene:
4763
OMIM:
162200
162210
193520
601321
607785
613113
UCSC Genome Browser:
NM_000267
RefSeq RNA:
NM_000267
NM_001042492
NM_001128147
RefSeq Protein:
NP_000258
NP_001035957
NP_001121619
MutDB:
NF1
ALFRED:
LO000299U
HuGE:
NF1
Comparative Toxicogenomics Database:
4763
ModBase:
P21359
HGNC:
7765

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