This Panel is marked as Retired
Multiple Tumours
Gene: NF2
NF2 (neurofibromin 2)
EnsemblGeneIds (GRCh38): ENSG00000186575
EnsemblGeneIds (GRCh37): ENSG00000186575
OMIM: 607379, Gene2Phenotype
NF2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000186575
EnsemblGeneIds (GRCh37): ENSG00000186575
OMIM: 607379, Gene2Phenotype
NF2 is in 10 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Neurofibromatosis Type 2Vestibular schwannoma
- Meningioma
- Ependymoma
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 607379
- Clinvar variants
- Variants in NF2
- Penetrance
- Complete
- Panels with this gene
-
- Familial tumours of the nervous system
- Bilateral congenital or childhood onset cataracts
- Pigmentary skin disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Adult solid tumours for rare disease
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)NF2 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NF2 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NF2 was created by ellenmcdonagh