Bilateral congenital or childhood onset cataracts
Gene: CYP27A1
Phenotypes
Cerebrotendinous xanthomatosis
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 evidence provided.Created: 31 May 2016, 9:03 a.m.
Is on the Manchester congenital cataracts gene panel. Associated with Cerebrotendinous xanthomatosis in OMIM, which includes Juvenile cataracts as a phenotype. Only case reported on OMIM.Created: 29 Apr 2016, 10:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CYP27A1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for CYP27A1 were set to Gallus et al (2010) Eur J Neurol 17:1259-1262; Garuti et al (1997) J Lipid Res 38:2322-2334
Phenotypes for CYP27A1 were set to Cerebrotendinous xanthomatosis
This gene has been classified as Amber List (Moderate Evidence).
CYP27A1 was added to Cataractspanel. Sources: UKGTN