Cerebral vascular malformations
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Moyamoya syndrome can develop in cases with NF1Created: 30 Nov 2024, 6:03 a.m. | Last Modified: 30 Nov 2024, 6:03 a.m.
Panel Version: 0.105
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis type 1 MONDO:0018975
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sangavi Sivagnanasundram (Melbourne Health)
The CVM phenotype is secondary to a diagnosis of NF1 and is typically seen in affected individuals of a younger age. Individuals with a clinical diagnosis of NF1 have an increased risk of developing cerebrovascular diseases. Cerebral angiography can appear similar to moyamoya like findings and small telangiectatic vessels in some NF1 affected individuals.Created: 19 Nov 2024, 4:44 a.m. | Last Modified: 19 Nov 2024, 4:44 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurofibromatosis type 1 MONDO:0018975
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Moyamoya disease
- Neurofibromatosis, type 1 162200
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nf1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NF1 was added gene: NF1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 10754001 Phenotypes for gene: NF1 were set to Moyamoya disease; Neurofibromatosis, type 1 162200