Skeletal dysplasia
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
Missense (L2067P, R1391S, R1267P) in patients with neurofibromatosis have also been shown to result in LoF (OMIM).Created: 17 Apr 2020, 4:46 a.m. | Last Modified: 17 Apr 2020, 4:46 a.m.
Panel Version: 0.2303
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukemia, juvenile myelomonocytic 607785; Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321; Watson syndrome 193520
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Neurofibromatosis-Noonan syndrome 601321
- Neurofibromatosis, type 1 162200
- Neurofibromatosis, type 1 162200
- Neurofibromatosis, familial spinal 162210
- Neurofibromatosis-Noonan syndrome 601321
- Neurofibromatosis, familial spinal 162210
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NF1 was added gene: NF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200; Neurofibromatosis, type 1 162200; Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, familial spinal 162210