Pigmentary skin disorders
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NEUROFIBROMATOSIS, TYPE I; NF1
Publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Variants in this gene cause Neurofibromatosis type 1. The clinical features of this condition include café au lait patches.and axillary and inguinal freckling.Created: 17 Apr 2019, 6:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1
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, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- NEUROFIBROMATOSIS, TYPE I
- NF1
- Neurofibromatosis type I
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Publications
- 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
- Intellectual disability
- 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
- Neurofibromatosis type 1 (GMS)
- Skeletal dysplasia
- Primary lymphoedema
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes NEUROFIBROMATOSIS, TYPE I; NF1 for gene: NF1 Publications for gene NF1 were changed from to 9003501
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to NF1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NF1 was added gene: NF1 was added to Pigmentary skin disorders. 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