BEST1

bestrophin 1
OMIM: 607854, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red BEST1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Red BEST1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	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
Red BEST1 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.14	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Best Vitelliform Macular Dystrophy (BVMD), Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC), Additional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber, Autosomal Recessive Bestrophinopathy (ARB) Best macular dystrophy, 153700
Green BEST1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Eligibility statement prior genetic testing Expert Review Green Phenotypes ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220 Bestrophinopathy, autosomal recessive , OMIM:611809 Macular dystrophy, vitelliform, 2, OMIM:153700 Retinitis pigmentosa, concentric, OMIM:613194 Retinitis pigmentosa-50, OMIM:613194 Vitreoretinochoroidopathy, OMIM:193220
Green BEST1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220 Bestrophinopathy, autosomal recessive , OMIM:611809 Macular dystrophy, vitelliform, 2, OMIM:153700 Retinitis pigmentosa, concentric, OMIM:613194 Retinitis pigmentosa-50, OMIM:613194 Vitreoretinochoroidopathy, OMIM:193220 Tags watchlist_moi