Tumour predisposition - adult onset
Gene: NF2EnsemblGeneIds (GRCh38): ENSG00000186575
EnsemblGeneIds (GRCh37): ENSG00000186575
OMIM: 607379, Gene2Phenotype
NF2 is in 10 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Neurofibromatosis, type 2, 101000
- Acoustic neuroma
- (originally on Familial schwannomatosis gene panel)
- Brain, CNS, and PNS Cancer
- Schwannomatosis, 162091
- Neurofibromatosis, Type II
- Neurofibromatosis, Type 2
- Meningioma, NF2-related, somatic, 607174
- OMIM
- 607379
- Clinvar variants
- Variants in NF2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Familial tumours of the nervous system
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Set Phenotypes, Set publications
Rebecca Foulger (Genomics England curator)Added phenotypes Neurofibromatosis, type 2, 101000; Brain, CNS, and PNS Cancer; (originally on Familial schwannomatosis gene panel); Schwannomatosis, 162091; Neurofibromatosis, Type II; Neurofibromatosis, Type 2; Meningioma, NF2-related, somatic, 607174 for gene: NF2 Publications for gene NF2 were changed from to 25725045; 19880713
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NF2 was added gene: NF2 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Green Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF2 were set to Acoustic neuroma