Cerebral vascular malformations

Gene: NF1

Green List (high evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels

4 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Moyamoya syndrome can develop in cases with NF1
Created: 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)

Red List (low evidence)

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

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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

History Filter Activity

30 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nf1 has been classified as Green List (High Evidence).

30 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nf1 has been classified as Green List (High Evidence).

18 May 2020, Gel status: 2

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