Sarcoma of possible germline origin
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
NF1 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:28 p.m. | Last Modified: 26 Jan 2026, 6:28 p.m.
Panel Version: 0.4
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162200, #162210, #601321 & #607785) and the OMIM records were last accessed on 30 December 2025.Created: 30 Dec 2025, 2:24 p.m. | Last Modified: 30 Dec 2025, 2:24 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, OMIM:162200; neurofibromatosis-Noonan syndrome, MONDO:0011035; Neurofibromatosis, familial spinal, OMIM:162210; Leukemia, juvenile myelomonocytic, OMIM:607785; Neurofibromatosis-Noonan syndrome, OMIM:601321
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- neurofibromatosis type 1, MONDO:0018975
- Neurofibromatosis, type 1, OMIM:162200
- neurofibromatosis-Noonan syndrome, MONDO:0011035
- Neurofibromatosis, familial spinal, OMIM:162210
- Leukemia, juvenile myelomonocytic, OMIM:607785
- Neurofibromatosis-Noonan syndrome, OMIM:601321
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Inherited predisposition to GIST
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Segmental or atypical neurofibromatosis type 1 testing
- Pigmentary skin disorders
- Cerebral vascular malformations
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- RASopathies
- Mosaic skin disorders - deep sequencing
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- 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
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Monogenic hearing loss
- Neurofibromatosis type 1 (GMS)
- Sarcoma of possible germline origin
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: NF1 was added gene: NF1 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, OMIM:162200; neurofibromatosis-Noonan syndrome, MONDO:0011035; Neurofibromatosis, familial spinal, OMIM:162210; Leukemia, juvenile myelomonocytic, OMIM:607785; Neurofibromatosis-Noonan syndrome, OMIM:601321