Bilateral congenital or childhood onset cataracts

Gene: SEC23A

I don't know

Zebrafish model - Lang et al (2006) Nature Genet 38:1198-1203.

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

Phenotypes
Cranio-lenticulo-sutural dysplasia

Publications

• Boyadjiev et al (2006) Nature Genet. 38: 1192-1197
• Boyadjiev et al (2011) Clin. Genet. 80: 169-176.

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

I don't know

Comment on list classification: Not enough evidence at this time to make this gene red, as the second case did not find a second SEC23A variant (the unaffacted father also had the missense M702V mutation found in the proband) and indicated that a digenic mechanism may be involved.

Created: 6 Jun 2016, 8:14 a.m.

Is on the Manchester congenital cataracts gene panel. It is a possible DD gene for Craniolenticulosutural dysplasia (includes punctate cataract and sutural cataract phenotypes). Digenic inheritance may be involved...a second mutation was not found in a male boy who inherited a missense mutation from his unaffected father (PMID: 21039434). Members of a Saudi Arabian family were homozygous for a missense mutation in this gene (PMID: 16980979). Does not seem to be enough evidence at this time).

Created: 31 May 2016, 11:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal