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Segmental or atypical neurofibromatosis type 1 testing
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
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162200, #162210 & #60132) and the OMIM records were last accessed on 29 December 2025.Created: 29 Dec 2025, 12:54 p.m. | Last Modified: 29 Dec 2025, 12:54 p.m.
Panel Version: 1.2
NF1 has been added to the panel for R376 Segmental or atypical neurofibromatosis type 1 testing with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:37 p.m. | Last Modified: 30 Jun 2023, 3:37 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Neurofibromatosis, type 1, OMIM:162200
- Neurofibromatosis, familial spinal, OMIM:162210
- Neurofibromatosis-Noonan syndrome, OMIM:601321
- neurofibromatosis type 1, MONDO:0018975
- neurofibromatosis-Noonan syndrome, MONDO:0011035
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, OMIM:162200; Neurofibromatosis, familial spinal, OMIM:162210; Neurofibromatosis-Noonan syndrome, OMIM:601321; neurofibromatosis type 1, MONDO:0018975; neurofibromatosis-Noonan syndrome, MONDO:0011035
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: NF1 was added gene: NF1 was added to Segmental or atypical neurofibromatosis type 1 testing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown