Genomics England
GMS Panels
Panels
Genes and Entities

BEST1

bestrophin 1
OMIM: 607854
PanelMode of inheritanceDetails
2 panels
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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