This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neurofibromatosis, type 2, 101000
- Meningioma, NF2-related, somatic, 607174
- Schwannomatosis, 162091
- Neurofibromatosis, Type 2
- Neurofibromatosis, Type II
- OMIM
- 607379
- Clinvar variants
- Variants in NF2
- Penetrance
- Complete
- 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
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)NF2 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)NF2 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NF2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NF2 was created by ellenmcdonagh