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| Structural eye disease v3.61 | CRYBB2 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CRYBB2. Tag Q4_23_NHS_review tag was added to gene: CRYBB2. |
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| Structural eye disease v3.61 | CRYBB2 | Achchuthan Shanmugasundram Classified gene: CRYBB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.61 | CRYBB2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.61 | CRYBB2 | Achchuthan Shanmugasundram Gene: crybb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.60 | CRYBB2 | Achchuthan Shanmugasundram Publications for gene: CRYBB2 were set to 29386872 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.59 | CRYBB2 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBB2 were changed from Cataract 3, multiple types, 601547 to Cataract 3, multiple types, OMIM:601547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.58 | CRYBB2 | Achchuthan Shanmugasundram reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.58 | CRYBB2 | Hannah Knight reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29386872, 25489230, 21402992, 2240043, 9158139; Phenotypes: Cataract 3, multiple types; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | CRYBB2 | Nicola Ragge reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 3, multiple types, 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CRYBB2 | Ivone Leong edited their review of gene: CRYBB2: Changed phenotypes: Cataract 3, multiple types, 601547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CRYBB2 | Ivone Leong reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 22, autosomal recessive, 609741; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | CRYBB2 |
Ivone Leong gene: CRYBB2 was added gene: CRYBB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYBB2 were set to 29386872 Phenotypes for gene: CRYBB2 were set to Cataract 3, multiple types, 601547 |
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