| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Retinitis pigmentosa_Autosomal Dominant v0.57 | BEST1 | Sangavi Sivagnanasundram reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29668979; Phenotypes: BEST1-related dominant retinopathy MONDO:0700238; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.0 | BEST1 |
Bryony Thompson gene: BEST1 was added gene: BEST1 was added to Autosomal Dominant 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||