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