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Severe Paediatric Disorders v0.12 | PAX6 | Louise Daugherty reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PAX6 | Louise Daugherty Publications for gene PAX6 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PAX6 | Louise Daugherty Mode of inheritance for gene PAX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PAX6 | Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PAX6 | Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PAX6 | Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PAX6 | Louise Daugherty Added phenotypes Keratitis, 148190; Anterior segment dysgenesis 5, multiple subtypes, 604229; ?Coloboma of optic nerve, 120430; ?Coloboma, ocular, 120200; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Optic nerve hypoplasia, 165550; Cataract with late-onset corneal dystrophy, 106210 for gene: PAX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PAX6 | Louise Daugherty Source Next Generation Children Project was added to PAX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PAX6 |
Louise Daugherty Source Expert Review Green was added to PAX6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PAX6 |
Louise Daugherty gene: PAX6 was added gene: PAX6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PAX6 was set to |