Pigmentary skin disorders

Gene: NF1

Green List (high evidence)

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

2 reviews

Anna de Burca (Genomics England Curator)

Green List (high evidence)

Variants in this gene cause Neurofibromatosis type 1. The clinical features of this condition include café au lait patches.and axillary and inguinal freckling.
Created: 17 Apr 2019, 6:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Neurofibromatosis, type 1

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: NF1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to NF1.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NF1 was added gene: NF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis type I