Groopman et al 2019 - Genes with diagnostic variants

Gene: NF1

Amber List (moderate evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 31 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: NF1; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Neurofibromatosis type 1; OMIM phenotype MIM no.: 162200; Number of cases: 2
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

History Filter Activity

2 Jul 2019, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to NF1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: NF1 was added gene: NF1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to Congenital or cystic renal disease; MIM 162200; Neurofibromatosis type 1