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| Structural eye disease v1.83 | BEST1 | Eleanor Williams Phenotypes for gene: BEST1 were changed from Retinitis pigmentosa, concentric, 613194; Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; Eye Disorders; Bestrophinopathy, autosomal recessive, 611809; staphyloma; 193220 to ?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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.82 | BEST1 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic for now. However two cases with angle closure glaucoma as part of the phenotype have been reported, so adding the watch list tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.82 | BEST1 | Eleanor Williams Mode of inheritance for gene: BEST1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.81 | BEST1 | Eleanor Williams Tag watchlist_moi tag was added to gene: BEST1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.81 | BEST1 | Eleanor Williams commented on gene: BEST1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | BEST1 | Nicola Ragge reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15452077, 21473666 ; Phenotypes: Vitelliform Macular degeneration 2, Microcornea, rod-cone dystrophy, cataract, and posterior, staphyloma, Bestrophinopathy, autosomal recessive, Retinitis pigmentosa, concentric , 153700, 193220, 611809, 613194; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | BEST1 | Ivone Leong reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15452077, 21473666 ; Phenotypes: Vitelliform Macular degeneration 2, 153700, Microcornea, rod-cone dystrophy, cataract, and posterior, staphyloma, Bestrophinopathy, autosomal recessive, 611809, Retinitis pigmentosa, concentric, 613194, 193220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | BEST1 |
Ivone Leong Source NHS GMS was added to BEST1. Source Expert Review Green was added to BEST1. Mode of inheritance for gene BEST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa, concentric, 613194; Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; Bestrophinopathy, autosomal recessive, 611809; staphyloma; 193220 for gene: BEST1 Publications for gene BEST1 were changed from to 21473666; 15452077 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Structural eye disease v0.2 | BEST1 |
Ellen McDonagh gene: BEST1 was added gene: BEST1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BEST1 was set to Phenotypes for gene: BEST1 were set to Eye Disorders |
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