Mosaic skin disorders - deep sequencing
Gene: NF1
NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
2 reviews
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: NF1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Neurofibromatosis type I
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited predisposition to GIST
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Segmental or atypical neurofibromatosis type 1 testing
- Pigmentary skin disorders
- Cerebral vascular malformations
- Paediatric or syndromic cardiomyopathy
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Intellectual disability
- 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
5 Dec 2019, Gel status: 3
Set publications
Catherine Snow (Genomics England)Publications for gene NF1 were changed from to 14605872; 17668375
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to NF1.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NF1 was added gene: NF1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis type I