Bilateral congenital or childhood onset cataracts
Gene: SEC23A
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
Variants in this GENE are reported as part of current diagnostic practice
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
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SEC23A was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Phenotypes for SEC23A were set to Craniolenticulosutural dysplasia; Cranio-lenticulo-sutural dysplasia
Publications for SEC23A were set to PMID: 21039434; 16980979; Boyadjiev et al (2006) Nature Genet. 38: 1192-1197; Boyadjiev et al (2011) Clin. Genet. 80: 169-176.
This gene has been classified as Amber List (Moderate Evidence).
SEC23A was added to Cataractspanel. Sources: UKGTN