Gene Symbol:
NF1
HGNC:7765
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q11.2
Filters:

Definitive classifications

neurofibromatosis type 1
Submitted as: OMIM:162200
AD
10/09/2020
Evaluated
11/09/2020
Submitted
neurofibromatosis-Noonan syndrome
Submitted as: OMIM:601321
AD
10/09/2020
Evaluated
11/09/2020
Submitted
neurofibromatosis-Noonan syndrome
Submitted as: OMIM:601321
AD
07/22/2015
Evaluated
11/25/2020
Submitted
neurofibromatosis type 1
Submitted as: OMIM:162200
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Watson syndrome
Submitted as: OMIM:193520
AD
07/22/2015
Evaluated
11/25/2020
Submitted
neurofibromatosis, familial spinal
Submitted as: OMIM:162210
AD
07/22/2015
Evaluated
11/25/2020
Submitted
neurofibromatosis type 1
AD
03/05/2019
Evaluated
04/21/2024
Submitted

Strong classifications

neurofibromatosis-Noonan syndrome
Submitted as: OMIM:601321
AD
10/07/2020
Evaluated
10/08/2020
Submitted
neurofibromatosis type 1
Submitted as: OMIM:162200
AD
02/11/2021
Evaluated
03/31/2021
Submitted
neurofibromatosis type 1
Submitted as: OMIM:162200
AD
05/31/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

AD
01/07/2021
Evaluated
03/31/2021
Submitted

Supportive classifications

neurofibromatosis-Noonan syndrome
Submitted as: Orphanet:638
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary pheochromocytoma-paraganglioma
Submitted as: Orphanet:29072
AD
09/14/2021
Evaluated
09/14/2021
Submitted

No Known Disease Relationship classifications

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.