Bilateral congenital or childhood onset cataracts
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
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Cataracts form part of the NF2 phenotype. Important diagnosis not to miss.Created: 7 Jun 2016, 1:13 p.m.
Sarah Waller (Manchester Centre for Genomic Medicine)
Cataracts are one of the NF2 diagnostic criteria in Baser et al (2011) Genet Med 13(6):576-581.Created: 25 May 2016, 8:11 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Source: OMIMCreated: 27 Jun 2016, 4:36 p.m.
Is on the Manchester congenital cataracts gene panel. Not associated with a disorder in Gene2Phenotype. Is associated with Neurofibromatosis type 2 in OMIM; some patients develop cataracts, often beginning in childhood (Genetics Home Reference).Created: 29 Apr 2016, 12:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- OMIM
- 607379
- Clinvar variants
- Variants in NF2
- Penetrance
- Complete
- Publications
-
- Baser et al (2011) Genet Med 13(6):576-581
- 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
27 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NF2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
31 May 2016, Gel status: 2
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NF2 were set to Baser et al (2011) Genet Med 13(6):576-581
13 May 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()NF2 was added to Cataractspanel. Sources: UKGTN