Familial Tumours Syndromes of the central & peripheral Nervous system
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, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Eligibility statement prior genetic testing
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neurofibromatosis, type 1, 162200
- Leukemia, juvenile myelomonocytic, 607785
- Melanoma, desmoplastic neurotrophic (2)
- Neurofibromatosis, familial spinal, 162210
- Neurofibromatosis-Noonan syndrome, 601321
- Neurofibromatosis, Type 1
- Neurofibromatosis, Type I
- (originally on Familial schwannomatosis gene panel)
- 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
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: UKGTN
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Radboud University Medical Center, Nijmegen