BEST1

PanelMode of inheritanceDetails
2 panels
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Best macular atrophy (AD), Bestrophinopathy (AR), Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD), Retinitis pigmentosa, concentric (AD), Retinitis pigmentosa-50 (AD), Vitelliform macular dystrophy, adult-onset (AD), Vitreoretinochoroidopathy (AD), Best macular dystrophy, 153700, Maculopathy, bull's-eye, Vitelliform macular dystrophy, adult-onset, 608161, Bestrophinopathy, 611809, Vitreoretinochoroidopathy, 193220, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1, Best Vitelliform Macular Dystrophy, Eye Disorders, Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, Best macular dystrophy, 153700, Macular Dystrophy/Degeneration/Stargardt Disease, Macular Dystrophy, Vitelliform, VMD, Macular Dystrophy, Vitelliform, Adult-Onset, Best macular dystrophy
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa, concentric, 613194, Vitelliform Macular degeneration 2, 153700, Microcornea, rod-cone dystrophy, cataract, and posterior, Eye Disorders, Bestrophinopathy, autosomal recessive, 611809, staphyloma, 193220