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| Structural eye disease v0.76 | CRYBA4 | Nicola Ragge reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: 16960806, 20577656 ; Phenotypes: Cataract 23 (and microphthalmia in 1 case), 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CRYBA4 | Ivone Leong edited their review of gene: CRYBA4: Changed phenotypes: Cataract 23 (and microphthalmia in 1 case), 610425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CRYBA4 | Ivone Leong reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: 16960806, 20577656 ; Phenotypes: Cataract 17, multiple types, 611544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | CRYBA4 |
Ivone Leong gene: CRYBA4 was added gene: CRYBA4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYBA4 were set to 16960806; 20577656 Phenotypes for gene: CRYBA4 were set to Cataract 23 (and microphthalmia in 1 case), 610425 |
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