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Severe Paediatric Disorders v0.12 | SOX2 | Louise Daugherty reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SOX2 | Louise Daugherty Publications for gene SOX2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SOX2 | Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SOX2 | Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SOX2 | Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SOX2 | Louise Daugherty Added phenotypes Optic nerve hypoplasia and abnormalities of the central nervous system, 206900; Microphthalmia, syndromic 3, 206900 for gene: SOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SOX2 |
Louise Daugherty Mode of inheritance for gene SOX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2 |
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Severe Paediatric Disorders v0.7 | SOX2 | Louise Daugherty Source Next Generation Children Project was added to SOX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SOX2 |
Louise Daugherty Source Expert Review Green was added to SOX2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SOX2 |
Louise Daugherty gene: SOX2 was added gene: SOX2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SOX2 was set to |