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Severe Paediatric Disorders v0.12 | OTX2 | Louise Daugherty reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | OTX2 | Louise Daugherty Publications for gene OTX2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | OTX2 | Louise Daugherty Mode of inheritance for gene OTX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | OTX2 | Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | OTX2 | Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | OTX2 | Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | OTX2 | Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125; Microphthalmia, syndromic 5, 610125 for gene: OTX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | OTX2 | Louise Daugherty Source Next Generation Children Project was added to OTX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | OTX2 |
Louise Daugherty Source Expert Review Green was added to OTX2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | OTX2 |
Louise Daugherty gene: OTX2 was added gene: OTX2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: OTX2 was set to |