Bilateral congenital or childhood onset cataracts
Gene: BEST1EnsemblGeneIds (GRCh38): ENSG00000167995
EnsemblGeneIds (GRCh37): ENSG00000167995
OMIM: 607854, Gene2Phenotype
BEST1 is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- 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
- OMIM
- 607854
- Clinvar variants
- Variants in BEST1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BEST1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()BEST1 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()BEST1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()BEST1 was added to Cataractspanel. Sources: Emory Genetics Laboratory