Bilateral congenital or childhood onset cataracts
Gene: BEST1
Phenotypes
Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) -dditional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber. ; Best macular dystrophy, 153700Maculopathy, bull's-eyeVitelliform macular dystrophy, adult-onset, 608161Bestrophinopathy, 611809Vitreoretinochoroidopathy, 193220Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
Comment when marking as ready: Not a gene suitable for the cataracts panel.Created: 2 Jun 2016, 1:24 p.m.
Not on the Manchester congenital cataracts gene panel. Associated with multiple phenotypes in OMIM, including Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (monoallelic).Created: 22 Apr 2016, 4:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for BEST1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
BEST1 was added to Cataractspanel. Sources: UKGTN
BEST1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
BEST1 was added to Cataractspanel. Sources: Emory Genetics Laboratory