Stroke

Gene: NF1

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Stroke can be a feature of the condition, with diolicoectasia, occlusion, and MoyaMoya-like subtypes reported.
Sources: Literature
Created: 12 May 2020, 2:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis, type 1 MIM#162200

Publications

History Filter Activity

17 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NF1 was added gene: NF1 was added to Stroke. Sources: Literature Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 31080139; 30356112; 8157015; 31279841 Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 MIM#162200 Review for gene: NF1 was set to GREEN