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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.159 | BEST1 | Sangavi Sivagnanasundram reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29668979, 39803400, 39259030; Phenotypes: autosomal recessive bestrophinopathy MONDO:0012733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | BEST1 |
Bryony Thompson gene: BEST1 was added gene: BEST1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BEST1 were set to 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 |
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