| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | SOX2 | Nicola Ragge reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12612584, 24859618; Phenotypes: Microphthalmia, syndromic 3 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SOX2 | Ivone Leong reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12612584, 24859618; Phenotypes: Microphthalmia, syndromic 3 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | SOX2 |
Ivone Leong Source NHS GMS was added to SOX2. Mode of pathogenicity for gene SOX2 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 3 206900 for gene: SOX2 Publications for gene SOX2 were changed from 12612584, 24859618 to 12612584; 24859618 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | SOX2 |
Ellen McDonagh gene: SOX2 was added gene: SOX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX2 were set to 12612584, 24859618 Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 206900 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||