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| Structural eye disease v1.9 | OTX2 | Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | OTX2 | Nicola Ragge reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15846561, 18781617,24859618; Phenotypes: OTX2-Related Syndromic Microphthalmia, severe, bilateral cases, Microphthalmia, syndromic 5, 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | OTX2 | Ivone Leong reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15846561, 18781617, 24859618; Phenotypes: OTX2-Related Syndromic Microphthalmia, severe, bilateral cases, Microphthalmia, syndromic 5, 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | OTX2 |
Ivone Leong Source NHS GMS was added to OTX2. Mode of pathogenicity for gene OTX2 was changed from to Other - please provide details in the comments Added phenotypes severe, bilateral cases; OTX2-Related Syndromic Microphthalmia; Microphthalmia, syndromic 5, 610125 for gene: OTX2 Publications for gene OTX2 were changed from 15846561, 18781617,24859618 to 15846561; 24859618; 18781617 |
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| Structural eye disease v0.2 | OTX2 |
Ellen McDonagh gene: OTX2 was added gene: OTX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 15846561, 18781617,24859618 Phenotypes for gene: OTX2 were set to OTX2-Related Syndromic Microphthalmia; severe, bilateral cases; Microphthalmia, syndromic 5, 610125 |
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