BEST1

bestrophin 1
OMIM: 607854, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green BEST1 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bestrophinopathy, autosomal recessive, MIM# 611809 Macular dystrophy, vitelliform, 2 MIM# 153700 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM# 193220 Retinitis pigmentosa-50, MIM# 613194 Retinitis pigmentosa, concentric, MIM# 61319 Vitreoretinochoroidopathy,MIM# 193220
Green BEST1 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.155 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1 Maculopathy, bull's-eye Best Vitelliform Macular Dystrophy Best macular dystrophy, 153700 Vitreoretinochoroidopathy, 193220 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Bestrophinopathy, 611809 Vitelliform macular dystrophy, adult-onset, 608161
Green BEST1 in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 0.57 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1 Maculopathy, bull's-eye Best Vitelliform Macular Dystrophy Best macular dystrophy, 153700 Vitreoretinochoroidopathy, 193220 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Bestrophinopathy, 611809 Vitelliform macular dystrophy, adult-onset, 608161
Green BEST1 in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 0.45 Component of the following Super Panels: Retinal Disorders Superpanel	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Best macular dystrophy, 153700 Vitelliform macular dystrophy, adult-onset, 608161 Vitreoretinochoroidopathy, 193220 Bestrophinopathy, 611809 Maculopathy, bull's-eye Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
Green BEST1 in Vitreoretinopathy Level 2: Ophthalmological disorders Version 1.5 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Vitreoretinochoroidopathy, MIM# 193220