Bilateral congenital or childhood onset cataracts

Gene: SIX5

Red List (low evidence)

BOR has variable expressivity and penetrance. SIX5 interacts with EYA1 in c.elegans. EYA1 mutations have ben reported to be associated with cataracts, however SIX5 mutations have not (Hoskins et al, 2007, Am J Hum Genet 80:800). Krug et al (2011) suggest that these SIX5 mutations may not be cause of BOR (Hum Mutat 32:183-190).

Created: 25 May 2016, 8:11 a.m.

Phenotypes
Broanchiootorenal syndrome

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Comment on list classification: Demoted to the red list due to expert review.

Created: 31 May 2016, 11:10 a.m.

Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Branchiootorenal syndrome 2 (however I am unsure whether cataracts is involved in this disease).

Created: 29 Apr 2016, 2:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown