Neurofibromatosis Type 1
Gene: NF1
Additional cases in support of an already green gene: 11 unrelated paediatric patients with a clinical diagnosis of neurofibromatosis type 1 (NF-1) and renovascular hypertension (RVH) harboured autosomal dominant variants in NF1 gene.
NF1 has already been associated with NF-1 in OMIM and Gene2Phenotype.Created: 12 Dec 2022, 10:29 p.m. | Last Modified: 12 Dec 2022, 10:29 p.m.
Panel Version: 1.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1, MIM# 162200, MONDO:0018975; Renovascular hypertension, MONDO:0006947
Publications
Comment on phenotypes: Formatting amendmentCreated: 11 Oct 2017, 9:01 a.m.
On the Neurofibromatosis, Schwannomas and Café au Lait 5 Gene Panel (UKGTN).Created: 5 Oct 2016, 9:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Watson syndrome
Phenotypes for NF1 were set to Neurofibromatosis, familial spinal; Familial Spinal Neurofibromatosis; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Watson syndrome, 162200
Panel finalised 14th November 2016
This gene has been classified as Green List (High Evidence).
NF1 was added to Neurofibromatosis Type 1panel. Sources: Illumina TruGenome Clinical Sequencing Services
Phenotypes for gene NF1 were set to Neurofibromatosis, familial spinal;Familial Spinal Neurofibromatosis;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Watson syndrome;162200
Phenotypes for gene NF1 were set to Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Watson syndrome;162200
NF1 was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen
NF1 was added to Neurofibromatosis Type 1panel. Sources: UKGTN,Eligibility statement prior genetic testing
NF1 was created by ellenmcdonagh