Cataracts

Gene: BEST1

Red List (low evidence)

BEST1 (bestrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000167995
EnsemblGeneIds (GRCh37): ENSG00000167995
OMIM: 607854, Gene2Phenotype
BEST1 is in 5 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

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)

Red List (low evidence)

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

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BEST1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

BEST1 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BEST1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BEST1 was added to Cataractspanel. Sources: Emory Genetics Laboratory