Tumour predisposition - adult onset
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Phenotypes
-
- Melanoma, desmoplastic neurotrophic (2)
- (originally on Familial schwannomatosis gene panel)
- Neurofibromatosis, familial spinal, 162210
- Neurofibromatosis-Noonan syndrome, 601321
- Neurofibromatosis, Type I
- Leukemia, juvenile myelomonocytic, 607785
- Neurofibromatosis, Type 1
- Neurofibromatosis, type 1, 162200
- Neurofibromatosis
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- DDG2P
- Cerebral vascular malformations
- Segmental or atypical neurofibromatosis type 1 testing
- Fetal anomalies
- 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
- Skeletal dysplasia
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Monogenic hearing loss
- Paediatric or syndromic cardiomyopathy
- 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
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Neurofibromatosis-Noonan syndrome, 601321; Melanoma, desmoplastic neurotrophic (2); Neurofibromatosis, familial spinal, 162210; (originally on Familial schwannomatosis gene panel); Leukemia, juvenile myelomonocytic, 607785; Neurofibromatosis, Type 1; Neurofibromatosis, type 1, 162200; Neurofibromatosis, Type I for gene: NF1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NF1 was added gene: NF1 was added to Tumour predisposition - adult onset. Sources: Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to Neurofibromatosis