Activity
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6 actions
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 | ABCA4 | Zornitza Stark Marked gene: ABCA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 | ABCA4 | Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.19 | ABCA4 | Zornitza Stark Publications for gene: ABCA4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 | ABCA4 | Zornitza Stark Tag deep intronic tag was added to gene: ABCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 | ABCA4 | Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | ABCA4 |
Bryony Thompson gene: ABCA4 was added gene: ABCA4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to Macular Degeneration (Dominant); Stargardt disease 1, 248200; Macular degeneration, age-related, 2, 153800; Achromatopsia, Cone, and Cone-rod Dystrophy; Retinal dystrophy, early-onset severe, 248200; Stargardt Disease, Recessive; Retinitis pigmentosa 19, 601718; Cone-rod dystrophy 3, 604116; Macular Dystrophy/Degeneration/Stargardt Disease; Fundus flavimaculatus, 248200 |
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