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| Structural eye disease v0.76 | BFSP2 | Nicola Ragge reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 12, multiple types, 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | BFSP2 | Ivone Leong edited their review of gene: BFSP2: Changed phenotypes: Cataract 12, multiple types, 611597 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | BFSP2 | Ivone Leong reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | BFSP2 |
Ivone Leong gene: BFSP2 was added gene: BFSP2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BFSP2 were set to Cataract 12, multiple types, 611597 |
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