Activity
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| Structural eye disease v0.76 | CBS | Nicola Ragge reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 7611293, 24169224, 21626167, 11774777; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CBS | Ivone Leong edited their review of gene: CBS: Changed phenotypes: Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CBS | Ivone Leong reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 7611293, 24169224, 21626167, 11774777; Phenotypes: Cataract 31, multiple types, 605387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | CBS |
Ivone Leong gene: CBS was added gene: CBS was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 24169224; 11774777; 21626167; 7611293 Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200 |
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