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| Structural eye disease v0.76 | C12orf57 | Nicola Ragge reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453665, 24859618; Phenotypes: Temtamy syndrome, 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | C12orf57 | Ivone Leong reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453665 24859618; Phenotypes: Temtamy syndrome, 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | C12orf57 |
Ivone Leong Source NHS GMS was added to C12orf57. Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57 Publications for gene C12orf57 were changed from 23453665, 24859618 to 23453665 24859618 |
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| Structural eye disease v0.2 | C12orf57 |
Ellen McDonagh gene: C12orf57 was added gene: C12orf57 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf57 were set to 23453665, 24859618 Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340 |
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