Neurofibromatosis Type 1

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

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Formatting amendment
Created: 11 Oct 2017, 9:01 a.m.

Ellen McDonagh (Genomics England Curator)

On the Neurofibromatosis, Schwannomas and Café au Lait 5 Gene Panel (UKGTN).
Created: 5 Oct 2016, 9:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Watson syndrome

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Neurofibromatosis, familial spinal
  • Familial Spinal Neurofibromatosis
  • Neurofibromatosis, type 1
  • Neurofibromatosis-Noonan syndrome
  • Watson syndrome, 162200
OMIM
613113
Clinvar variants
Variants in NF1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Oct 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NF1 were set to Neurofibromatosis, familial spinal; Familial Spinal Neurofibromatosis; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Watson syndrome, 162200

14 Nov 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Oct 2016, Gel status: 3

Upload gene information

Ellen McDonagh (Genomics England Curator)

NF1 was added to Neurofibromatosis Type 1panel. Sources: Illumina TruGenome Clinical Sequencing Services

5 Oct 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene NF1 were set to Neurofibromatosis, familial spinal;Familial Spinal Neurofibromatosis;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Watson syndrome;162200

5 Oct 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene NF1 were set to Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Watson syndrome;162200

5 Oct 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

NF1 was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen

5 Oct 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Neurofibromatosis Type 1panel. Sources: UKGTN,Eligibility statement prior genetic testing

5 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NF1 was created by ellenmcdonagh