Cerebral vascular malformations
Gene: NF1
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
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
Additional cases in support of neurofibromatosis type 1: 11 unrelated paediatric patients with a clinical diagnosis of neurofibromatosis type 1 (NF-1) and renovascular hypertension (RVH) harboured autosomal dominant variants in NF1 gene.Created: 15 Nov 2022, 2:22 p.m. | Last Modified: 15 Nov 2022, 2:22 p.m.
Panel Version: 1.465
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1, MIM# 162200, MONDO:0018975; renovascular hypertension, MONDO:0006947
Publications
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
Gene: nf1 has been classified as Green List (High Evidence).
Gene: nf1 has been classified as Green List (High Evidence).
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