Lymphoedema_syndromic

Gene: NF1

Green List (high evidence)

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

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History Filter Activity

29 Jan 2020, Gel status: 3

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

Sue White (Victorian Clinical Genetics Services)

gene: NF1 was added gene: NF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF1 were set to 19845691; 16380919; 12707950 Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321