Bilateral congenital or childhood onset cataracts
Gene: SRD5A3
Phenotypes
Kahrizi syndrome.
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted to green due to expert review and current diagnostic at Manchester.Created: 31 May 2016, 11:28 a.m.
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for congenital disorders of glycosylation...in PMID:20637498 some patients were reported as having cataracts. This gene is associated with Kahrizi syndrome in OMIM (includes cataracts as a phenotype), however only one family report is provided.Created: 29 Apr 2016, 2:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for SRD5A3 were set to Kahrizi syndrome.
Publications for SRD5A3 were set to Kahrizi et al (2011) Europ. J. Hum. Genet. 19: 115-117 ; Najmabadi et al (2011) Nature 478:57
Mode of inheritance for SRD5A3 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).
SRD5A3 was added to Cataractspanel. Sources: UKGTN