ClinGen Knowledge Base | Clinical Genome Resource

NF1

Name: NF1
HGNC ID: HGNC:7765
Cytogenetic Location: 17q11.2
Haploinsufficiency: Sufficient Evidence
Triplosensitivity: No Evidence

External Resources: View external resources
ClinVar Variants: View ClinVar Variants
GeneReviews®: View GeneReviews

NF1 - neurofibromatosis type 1 | MONDO:0018975

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	06/22/2017	View report
Clinical Actionability	View report for scoring details	01/11/2018	View report

NF1 - hereditary pheochromocytoma-paraganglioma | MONDO:0017366

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	06/22/2017	View report

NF1 - familial ovarian cancer | MONDO:0016248

Curated by	Classification	Date	Report
Gene-Disease Validity	No Reported Evidence	02/22/2017	View report

NF1

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency	06/01/2017	View report
Gene Dosage Sensitivity	No Evidence for Triplosensitivity	06/01/2017	View report

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