Bilateral congenital or childhood onset cataracts
Gene: SC5D
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
Variants in this GENE are reported as part of current diagnostic practice
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
This gene has been classified as Green List (High Evidence).
Publications for SC5D were set to Rossi et al (2007) Am J Med Genet A 143A:2371-2381; Gillespie et al (2014) Ophthalmology 121(11):2124-37
Mode of inheritance for SC5D was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SC5DL* was added to Cataractspanel. Sources: UKGTN