Bilateral congenital or childhood onset cataracts
Gene: MAN2B1Comment on list classification: Cataracts fairly common in alpha-mannosidosis.Created: 7 Jun 2016, 1:12 p.m.
Beck et al (2013) J Rare dis 8:88 4/44 patients had cataracts. Riise Steinland et al (2011) and others - mutations reported in several patients but no mention of cataracts. Mutations appear to be fully penetrant but cataracts do not appear to be predominant featureCreated: 25 May 2016, 8:11 a.m.
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for LYSOSOMAL ALPHA-MANNOSIDOSIS (though I am unsure whether cataracts is a phenotype included in this).Created: 29 Apr 2016, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis alpha- types I and II
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for MAN2B1 were set to Mannosidosis alpha- types I and II
Publications for MAN2B1 were set to Riise Steinland et al (2011) Hum Mutat 33:511-520; Berg et al (1999) Am j Hum Genet 64:77-88; Gotoda et al (1998) Am J Hum Genet 63:1015-1024; and many others
Mode of inheritance for MAN2B1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
MAN2B1 was added to Cataractspanel. Sources: UKGTN