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| Pituitary hormone deficiency v0.55 | SOX2 |
Chirag Patel Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3 (206900) to Microphthalmia, syndromic 3, MIM# 206900 Publications for gene SOX2 were changed from 20301477, 16932809, 24211324, 21326281 to 20301477, 16932809, 24211324, 21326281 |
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| Pituitary hormone deficiency v0.54 | SOX2 | Chirag Patel reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301477, 16932809, 24211324, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.0 | SOX2 |
Seb Lunke gene: SOX2 was added gene: SOX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX2 were set to 29371155; 16932809; 30450772 Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900) |
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