Undiagnosed neurocutaneous disorders
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 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
-
- 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 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