Lymphoedema_syndromic
Gene: NF1
NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Neurofibromatosis, type 1 162200
- Neurofibromatosis-Noonan syndrome 601321
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rasopathy
- Gastrointestinal Stromal Tumour
- Stroke
- Schwannoma
- Cardiomyopathy_Paediatric
- Breast Cancer
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Paraganglioma_phaeochromocytoma
- Facial papules
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Interstitial Lung Disease
- Cerebral vascular malformations
- Callosome
- Autism
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: NF1 was added gene: NF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF1 were set to 19845691; 16380919; 12707950 Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321