Adult solid tumours cancer susceptibility
Gene: NF1
NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
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
- Expert Review Green
- Expert list
- Phenotypes
-
- Neurofibromatosis
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- Complete
- Panels with this gene
-
- Inherited predisposition to GIST
- Familial pulmonary fibrosis
- Segmental or atypical neurofibromatosis type 1 testing
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Cerebral vascular malformations
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Hydrocephalus
- RASopathies
- Mosaic skin disorders - deep sequencing
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Sarcoma cancer susceptibility
- Monogenic short stature
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Skeletal dysplasia
- Neurofibromatosis type 1 (GMS)
- Primary lymphoedema
- Intellectual disability
History Filter Activity
2 Aug 2019, Gel status: 3
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to NF1.
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor.
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Adult solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NF1 was created by ellenmcdonagh
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Adult solid tumourspanel. Sources: Expert list