Bilateral congenital or childhood onset cataracts
Gene: NF2Comment on list classification: Cataracts form part of the NF2 phenotype. Important diagnosis not to miss.Created: 7 Jun 2016, 1:13 p.m.
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.
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
Mode of inheritance for NF2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for NF2 were set to Baser et al (2011) Genet Med 13(6):576-581
This gene has been classified as Amber List (Moderate Evidence).
NF2 was added to Cataractspanel. Sources: UKGTN