Inherited predisposition to GIST
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
3 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: Although NF1 is associated with GIST, it was agreed that the gene should not be included in this panel as it is expected that the referring clinician will be able to exclude Neurofibromatosis type 1 on clinical examination.Created: 8 Feb 2019, 11:44 a.m.
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Phenotypes
-
- Neurofibromatosis, type 1, OMIM:162200
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Inherited predisposition to GIST
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Segmental or atypical neurofibromatosis type 1 testing
- Paediatric or syndromic cardiomyopathy
- Cerebral vascular malformations
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Pigmentary skin disorders
- RASopathies
- Mosaic skin disorders - deep sequencing
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- DDG2P
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Monogenic short stature
- Neurofibromatosis Type 1
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Monogenic hearing loss
- Neurofibromatosis type 1 (GMS)
- Sarcoma of possible germline origin
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, OMIM:162200
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: nf1 has been classified as Red List (Low Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: NF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: nf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NF1 was added gene: NF1 was added to Inherited predisposition to GIST. Sources: NHS GMS Mode of inheritance for gene: NF1 was set to