Childhood solid tumours
Gene: NF2EnsemblGeneIds (GRCh38): ENSG00000186575
EnsemblGeneIds (GRCh37): ENSG00000186575
OMIM: 607379, Gene2Phenotype
NF2 is in 10 panels
5 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
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 groupCreated: 7 Mar 2016, 11:33 p.m.
Richard Scott (North Thames GMC/UCL)
Bilateral tumours would fulfill eligibility criteria for paediatric tumour syndromes groupCreated: 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
-
- Familial tumours of the nervous system
- Childhood solid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
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
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)
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for NF2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)NF2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene NF2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)NF2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)NF2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen