Activity
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11 actions
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| Structural eye disease v4.34 | FOXD3 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As the evidence for the association of FOXDe3 gene with eye disorder is disputed, this gene should be considered for demotion to red rating in the next GMS update.; to: Comment on list classification: As the evidence for the association of FOXD3 gene with eye disorder is disputed, this gene should be considered for demotion to red rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.34 | FOXD3 | Achchuthan Shanmugasundram Tag disputed tag was added to gene: FOXD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.34 | FOXD3 | Achchuthan Shanmugasundram Classified gene: FOXD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.34 | FOXD3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As the evidence for the association of FOXDe3 gene with eye disorder is disputed, this gene should be considered for demotion to red rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.34 | FOXD3 | Achchuthan Shanmugasundram Gene: foxd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.33 | FOXD3 |
Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: FOXD3. Tag Q3_25_demote_red tag was added to gene: FOXD3. |
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| Structural eye disease v4.33 | FOXD3 | Achchuthan Shanmugasundram reviewed gene: FOXD3: Rating: RED; Mode of pathogenicity: None; Publications: 22815627; Phenotypes: aniridia, MONDO:0019172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | FOXD3 | Nicola Ragge reviewed gene: FOXD3: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22815627; Phenotypes: aniridia, Peters anomaly, Anterior segment dysgenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | FOXD3 | Ivone Leong reviewed gene: FOXD3: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22815627; Phenotypes: aniridia, Peters anomaly, Anterior segment dysgenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | FOXD3 |
Ivone Leong Source NHS GMS was added to FOXD3. Mode of pathogenicity for gene FOXD3 was changed from to Other - please provide details in the comments Added phenotypes Anterior segment dysgenesis; Peters anomaly; aniridia for gene: FOXD3 |
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| Structural eye disease v0.2 | FOXD3 |
Ellen McDonagh gene: FOXD3 was added gene: FOXD3 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: FOXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXD3 were set to 22815627 Phenotypes for gene: FOXD3 were set to aniridia; Peters anomaly; Anterior segment dysgenesis |
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