Bilateral congenital or childhood onset cataracts

Gene: SC5D

Green List (high evidence)

Well understood biochemical pathway. 1 additonal patient reported in MCGM with compound het mutation, cataracts and symptoms of mild lathosterolosis.

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Rossi et al (2007) Am J Med Genet A 143A:2371-2381
• Gillespie et al (2014) Ophthalmology 121(11):2124-37

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

Green List (high evidence)

Comment on list classification: Promoted to green due to expert review.

Created: 31 May 2016, 11:02 a.m.

This is the approved HGNC-approved symbol for "SC5DL" which is on the Manchester congenital cataracts gene panel. See the OMIM link above. It is a confirmed DD gene for lathosterolosis (which includes cataract as a phenotype).

Created: 29 Apr 2016, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal