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Severe Paediatric Disorders v0.17 | ABCA4 | Louise Daugherty Mode of inheritance for gene ABCA4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ABCA4 | Louise Daugherty reviewed gene: ABCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ABCA4 | Louise Daugherty Publications for gene ABCA4 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ABCA4 | Louise Daugherty Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ABCA4 | Louise Daugherty Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ABCA4 | Louise Daugherty Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ABCA4 | Louise Daugherty Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ABCA4 | Louise Daugherty Source Next Generation Children Project was added to ABCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ABCA4 |
Louise Daugherty Source Expert Review Green was added to ABCA4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | ABCA4 |
Louise Daugherty gene: ABCA4 was added gene: ABCA4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ABCA4 was set to |