Skeletal dysplasia
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
disorganized development of skeletal components gp of SD - macrocephaly and short stature have been reported in several clinical studies. ; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NF1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported in NeurofibromatosisCreated: 29 Jul 2016, 8:25 a.m.
Comment on phenotypes: Variants also reported in Leukemia, juvenile myelomonocytic 607785 and Watson syndrome 193520Created: 29 Jul 2016, 8:25 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1 162200
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Neurofibromatosis, type 1 162200
- Neurofibromatosis, type 1 162200
- Neurofibromatosis, familial spinal 162210
- Neurofibromatosis-Noonan syndrome 601321
- Neurofibromatosis, familial spinal 162210
- Neurofibromatosis-Noonan syndrome 601321
- 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
- 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
Eleanor Williams (Genomics England Curator)Added phenotypes Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to NF1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NF1 were set to Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Sarah Leigh (Genomics England Curator)NF1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)NF1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)NF1 was added to Unexplained skeletal dysplasiapanel. Sources: