Tumour predisposition - childhood onset

Gene: NF2

Green List (high evidence)

NF2 (neurofibromin 2)
EnsemblGeneIds (GRCh38): ENSG00000186575
EnsemblGeneIds (GRCh37): ENSG00000186575
OMIM: 607379, Gene2Phenotype
NF2 is in 10 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27

Lara Hawkes (Genomics England)

Green List (high evidence)

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

Phenotypes
Acoustic neuroma

Richard Scott (Genomics England Curator)

Comment on list classification: Bilateral tumours would fulfill eligibility criteria for paediatric tumour syndromes group
Created: 7 Mar 2016, 11:33 p.m.

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Bilateral tumours would fulfill eligibility criteria for paediatric tumour syndromes group
Created: 7 Mar 2016, 9:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
101000

Publications

Ellen Thomas (Genomics England Curator)

Comment on list classification: Not syndromic; recognisable pattern of malignancy.
Created: 14 Feb 2016, 5:21 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meningioma, NF2-related, somatic, 607174
  • Schwannomatosis, 162091
  • Neurofibromatosis, Type 2
  • Neurofibromatosis, Type II
  • loss of heterozygosity Neurofibromatosis, type 2, 101000
  • Acoustic neuroma
OMIM
607379
Clinvar variants
Variants in NF2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NF2. Mode of inheritance for gene NF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acoustic neuroma for gene: NF2 Publications for gene NF2 were changed from to 23788249

30 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to NF2. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for NF2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

14 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

NF2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN

22 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene NF2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

NF2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

NF2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen