RASopathies
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is a confirmed DD gene for neurofibromatosis-noonan syndrome and neurofibromatosis type 1. Comment from Reviewer: Shares overlapping features with Noonan syndrome.
Helen Savage (Congenica Ltd), Jan. 27, 2016, 3:18 p.m.Created: 5 Feb 2016, 12:53 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on imprinted gene list.Created: 5 Feb 2016, 9:14 a.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis syndrome 1
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Neurofibromatosis-Noonan syndrome 601321
- Neurofibromatosis, type 1 162200
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- Complete
- 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 publications
Sarah Leigh (Genomics England Curator)Publications for gene: NF1 were set to PMID: 16380919; 19845691; 12707950
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NF1 were changed from Neurofibromatosis-Noonan syndrome 601321 to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NF1 were changed from Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis syndrome 1 to Neurofibromatosis-Noonan syndrome 601321
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NF1 were set to Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis syndrome 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NF1 were set to Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Noonan syndrome plus other features
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NF1 were set to PMID: 16380919; 19845691; 12707950
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene NF1 were set to Neurofibromatosis-Noonan Syndrome ;Neurofibromatosis Noonan syndrome ;Noonan syndrome;Noonan syndrome plus other features
Upload gene information
Ellen McDonagh (Genomics England Curator)NF1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
clearsources
Ellen McDonagh (Genomics England Curator)NF1All sources for gene: NF1 were removed
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)NF1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen