Neurofibromatosis Type 1
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Formatting amendmentCreated: 11 Oct 2017, 9:01 a.m.
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Neurofibromatosis, familial spinal
- Familial Spinal Neurofibromatosis
- Neurofibromatosis, type 1
- Neurofibromatosis-Noonan syndrome
- Watson syndrome, 162200
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Cerebral vascular malformations
- Segmental or atypical neurofibromatosis type 1 testing
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- RASopathies
- Inherited predisposition to GIST
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Inherited phaeochromocytoma and paraganglioma
- Monogenic hearing loss
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Neurofibromatosis Type 1
- Hydrocephalus
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Sarcoma of possible germline origin
- Neurofibromatosis type 1 (GMS)
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NF1 were set to Neurofibromatosis, familial spinal; Familial Spinal Neurofibromatosis; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Watson syndrome, 162200
panel promoted to version 1
Alice Gardham (Genomics England)Panel finalised 14th November 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)NF1 was added to Neurofibromatosis Type 1panel. Sources: Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene NF1 were set to Neurofibromatosis, familial spinal;Familial Spinal Neurofibromatosis;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Watson syndrome;162200
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene NF1 were set to Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Watson syndrome;162200
Upload gene information
Ellen McDonagh (Genomics England Curator)NF1 was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Neurofibromatosis Type 1panel. Sources: UKGTN,Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)NF1 was created by ellenmcdonagh