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
-
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- DDG2P
- Cerebral vascular malformations
- Segmental or atypical neurofibromatosis type 1 testing
- Monogenic short stature
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Paediatric or syndromic cardiomyopathy
- RASopathies
- Skeletal dysplasia
- Inherited predisposition to GIST
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Inherited phaeochromocytoma and paraganglioma
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Hydrocephalus
- Adult solid tumours for rare disease
- Multiple monogenic benign skin tumours
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Childhood solid tumours
- Sarcoma of possible germline origin
- Intellectual disability
- Neurofibromatosis type 1 (GMS)
- Monogenic hearing loss
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