Sarcoma cancer susceptibility
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1 162200
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
Helen Brittain (Genomics England Curator)
Causation is clear. Rhabdomyosarcomas are an uncommon complication. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1 162200
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
-
- Literature
- Expert Review Amber
- Phenotypes
-
- Neurofibromatosis, type 1 162200
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Skeletal dysplasia
- Monogenic hearing loss
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- Familial pulmonary fibrosis
- DDG2P
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Sarcoma of possible germline origin
- Segmental or atypical neurofibromatosis type 1 testing
- RASopathies
- Fetal anomalies
- Inherited predisposition to GIST
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Primary lymphoedema
- Neurofibromatosis type 1 (GMS)
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Cerebral vascular malformations
- Neurofibromatosis Type 1
- Mosaic skin disorders - Deep sequencing
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Hydrocephalus
- Childhood solid tumours
- Multiple monogenic benign skin tumours
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NF1 was added gene: NF1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200