Familial Tumours Syndromes of the central & peripheral Nervous system

Gene: NF1

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurofibromatosis, type 1, 162200
  • Leukemia, juvenile myelomonocytic, 607785
  • Melanoma, desmoplastic neurotrophic (2)
  • Neurofibromatosis, familial spinal, 162210
  • Neurofibromatosis-Noonan syndrome, 601321
  • Neurofibromatosis, Type 1
  • Neurofibromatosis, Type I
  • (originally on Familial schwannomatosis gene panel)
OMIM
613113
Clinvar variants
Variants in NF1
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

15 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Expert list

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Eligibility statement prior genetic testing

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: UKGTN

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Illumina TruGenome Clinical Sequencing Services

27 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Radboud University Medical Center, Nijmegen

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Eligibility statement prior genetic testing

22 Jul 2015, Gel status: 3

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Jul 2015, Gel status: 3

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: UKGTN

22 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Illumina TruGenome Clinical Sequencing Services

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

NF1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Radboud University Medical Center, Nijmegen