Schwannoma
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Schwannomas reported in condition.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 1:30 a.m. | Last Modified: 12 Sep 2024, 2:58 a.m.
Panel Version: 0.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Schwannoma, MONDO:0002546; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Schwannoma, MONDO:0002546
- Neurofibromatosis type 1, MONDO:0018975
- Neurofibromatosis, type 1, MIM#162200
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nf1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: nf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: NF1 was added gene: NF1 was added to Schwannoma. Sources: Expert list,Expert Review Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Schwannoma, MONDO:0002546; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200 Review for gene: NF1 was set to GREEN gene: NF1 was marked as current diagnostic