Cataracts

Gene: NF2

Green List (high evidence)

NF2 (neurofibromin 2)
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)

Green List (high evidence)

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)

I don't know

Comment on mode of inheritance: Source: OMIM
Created: 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

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