Bilateral congenital or childhood onset cataracts
Gene: DHCR7Comment on list classification: Cataracts part of SLO, which is a very variable condition in presentation.Created: 7 Jun 2016, 12:38 p.m.
Cataracts a feature in ~12% of SLOS patients. Lots of publications describing DHCR7 mutations in SLOS but haven't found one with specific mention of cataractsCreated: 25 May 2016, 8:10 a.m.
Phenotypes
Smith-Lemli-Opitz syndrome
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Is a confirmed DD gene for SMITH-LEMLI-OPITZ SYNDROME which does include cataracts as a phenotype.Created: 13 May 2016, 1:03 p.m.
Is on the Manchester congenital cataracts gene panel.Created: 29 Apr 2016, 10:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for DHCR7 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for DHCR7 were set to Smith-Lemli-Opitz syndrome
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
DHCR7 was added to Cataractspanel. Sources: UKGTN