Undiagnosed neurocutaneous disorders
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Neurofibromatosis, type 1, 162200
- Leukemia, juvenile myelomonocytic, 607785
- Melanoma, desmoplastic neurotrophic (2)
- Neurofibromatosis, familial spinal, 162210
- Neurofibromatosis-Noonan syndrome, 601321
- Watson syndrome, 193520
- Familial Spinal Neurofibromatosis
- Neurofibromatosis, Type 1
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- Complete
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Mosaic skin disorders - deep sequencing
- Segmental or atypical neurofibromatosis type 1 testing
- Monogenic hearing loss
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Intellectual disability
- Hydrocephalus
- Sarcoma of possible germline origin
- RASopathies
- Inherited predisposition to GIST
- Pigmentary skin disorders
- Cerebral vascular malformations
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited phaeochromocytoma and paraganglioma
- Monogenic short stature
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Neurofibromatosis type 1 (GMS)
- Sarcoma susceptibility
- DDG2P
- Childhood solid tumours
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
History Filter Activity
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for NF1 were set to Neurofibromatosis, type 1, 162200; Leukemia, juvenile myelomonocytic, 607785; Melanoma, desmoplastic neurotrophic (2); Neurofibromatosis, familial spinal, 162210; Neurofibromatosis-Noonan syndrome, 601321; Watson syndrome, 193520; Familial Spinal Neurofibromatosis; Neurofibromatosis, Type 1;
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Undiagnosed neurocutaneous disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)NF1 was created by ellenmcdonagh